Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that affects multiple parts of the body. It is associated with altered function of certain genes, particularly the NIPBL, SMC1A, and SMC3 genes. CdLS is also known by other names, including Brachmann-de Lange syndrome, NIPBL-related syndrome, and Cornelia de Lange Syndrome 1.

The symptoms of CdLS vary from person to person, but commonly include intellectual disability, developmental delays, and unique facial features. The syndrome can also cause problems with growth, hearing, vision, and heart function. Some affected individuals may have behavioral issues or seizures. CdLS is usually caused by genetic changes in the NIPBL gene, but in some cases, changes in other genes such as SMC1A, SMC3, or HDAC8 can also be responsible.

CdLS is inherited in an autosomal dominant manner, which means that a person only needs to inherit one altered copy of the responsible gene from either parent to be affected. In some cases, the genetic change is inherited from a parent who also has CdLS. However, most cases of CdLS occur spontaneously, without any family history of the syndrome.

There is currently no cure for CdLS, but supportive care and early intervention can help to manage the symptoms and improve a person’s quality of life. Regular medical monitoring is important for individuals with CdLS to address any associated medical issues. Genetic testing can confirm a diagnosis of CdLS and help to identify the specific genetic cause. Parents of a child with CdLS may also consider genetic testing to determine their risk of having another affected child.

For more information about CdLS, please visit resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov for additional scientific articles and research studies. Organizations such as the CdLS Foundation and the National Organization for Rare Disorders (NORD) also provide support and resources for individuals and families affected by CdLS.

References:

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

Clark, D. M., & FitzPatrick, D. R. (2019). The genetics of pre- and postnatal growth disorders. In Seminars in fetal & neonatal medicine (Vol. 24, No. 3, pp. 209-216). WB Saunders.

Larizza, L., & Ramos, F. J. (2017). Cornelia de Lange Syndrome. In GeneReviews® (Vol. 1993). University of Washington, Seattle.

Petersen, M. B., Weyzig, E. M., & van der Hagen, C. B. (2016). Cornelia de Lange Syndrome. In GeneReviews ® (Vol. 1993). University of Washington, Seattle.

Gervasini, C., Russo, S., & Cereda, A. (2019). CdLS Italian Study Group: medical approach to the diagnosis of Cornelia de Lange syndrome: consenus statement. Italian Journal of Pediatrics, 45(1), 1-15.

Frequency

Cornelia de Lange syndrome is a rare genetic condition that affects approximately 1 in 10,000 to 30,000 individuals worldwide.

The syndrome is caused by mutations in genes involved in the regulation of developmental processes. The NIPBL gene is the most commonly affected gene, accounting for about 60-65% of cases. Other genes such as SMC1A, SMC3, RAD21, and HDAC8 have also been associated with the condition.

The inheritance pattern of Cornelia de Lange syndrome can vary from autosomal dominant inheritance to de novo mutations. Approximately 30-40% of cases are inherited from an affected parent, while the remaining cases are due to new mutations that occur in the affected individual.

The severity of the condition can also vary, with some individuals having mild features and others having more severe symptoms. In some cases, the syndrome may not be diagnosed until later in childhood or even adulthood.

Research and scientific studies are ongoing to learn more about the condition and its genetic causes. Genetic testing can be done to confirm a diagnosis and identify the specific gene mutation. Resources such as the Online Mendelian Inheritance in Man (OMIM) database and the Developmental Disabilities Resource Center (DDRC) provide further information and resources for patients and families.

Advocacy groups and organizations, such as the Cornelia de Lange Syndrome Foundation, provide support and information for individuals and families affected by the syndrome.

References:

  1. Kaur M, et al. Cornelia de Lange Syndrome. StatPearls. 2021.
  2. Deardorff MA, et al. Cornelia de Lange Syndrome. In: Adam MP, et al., eds. GeneReviews®. 2012.
  3. Ramos FJ, et al. Cornelia de Lange Syndrome. Orphanet Journal of Rare Diseases. 2009.
  4. FitzPatrick DR. Cornelia de Lange Syndrome and Molecular Mechanisms of Development. Human Molecular Genetics. 2000.
  5. Petersen MB, et al. Cornelia de Lange Syndrome. In: GeneReviews®. 1999.

Causes

The exact cause of Cornelia de Lange syndrome (CdLS) is still not fully understood. However, several genes have been identified as being associated with CdLS.

The NIPBL gene, located on chromosome 5, is the most commonly mutated gene in individuals with CdLS. Mutations in this gene are found in around 50-70% of affected individuals.

Other genes that have been found to be associated with CdLS include SMC1A, located on the X chromosome, and SMC3, located on chromosome 10. Mutations in these genes are responsible for a smaller percentage of CdLS cases.

The NIPBL, SMC1A, and SMC3 genes are part of a protein complex known as the cohesin complex. This complex plays a crucial role in regulating the structure and function of chromosomes during cell division.

Studies have shown that mutations in these genes can disrupt the normal functioning of the cohesin complex, leading to the characteristic features of CdLS.

In addition to the above genes, mutations in other genes such as HDAC8, RAD21, BRD4, and ANKRD11 have also been associated with CdLS. These genes are thought to play a role in the development and function of various body systems.

The inheritance pattern of CdLS varies depending on the specific gene involved. Most cases of CdLS are caused by new mutations in the genes associated with the condition and occur sporadically, meaning they are not inherited from a parent.

However, CdLS can also be inherited in an autosomal dominant manner, with a 50% chance of passing the mutated gene to each child. Genetic testing can help determine the specific genetic cause of CdLS in an affected individual.

Research into the causes of CdLS is ongoing, and more genes and genetic factors are likely to be discovered in the future.

Learn more about the genes associated with Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is a genetic condition that affects multiple parts of the body and is characterized by intellectual disability, distinctive facial features, and limb abnormalities. The genetic inheritance of CdLS is considered to be autosomal dominant, but it can also be caused by spontaneous mutations.

This complex condition is caused by changes (mutations) in certain genes that are involved in the regulation of gene expression and developmental processes. Mutations in the NIPBL gene are the most common cause of CdLS and account for around 50-60% of cases. Other genes associated with CdLS include SMC1A, SMC3, HDAC8, RAD21, and BRD4, among others.

See also  CTNS gene

The NIPBL gene provides instructions for making a protein called NIPBL that plays a crucial role in the development of various organs and tissues during embryonic development. Mutations in the NIPBL gene result in the production of a nonfunctional or partially functional NIPBL protein, leading to the signs and symptoms of CdLS.

The SMC1A and SMC3 genes provide instructions for making proteins that are part of a complex called cohesin. These proteins are involved in regulating the structure and function of chromosomes during cell division and gene expression. Mutations in these genes disrupt the normal functioning of cohesin, leading to CdLS.

The HDAC8 gene provides instructions for making a protein called histone deacetylase 8. This protein is involved in the regulation of gene expression by removing certain chemical groups from the proteins around which DNA is wrapped. Mutations in the HDAC8 gene affect the activity of this protein and contribute to CdLS.

The RAD21 and BRD4 genes are also involved in the regulation of gene expression and have been found to be associated with a small percentage of CdLS cases. Mutations in these genes disrupt the normal regulation of gene expression and contribute to the development of CdLS.

Genetic testing can be useful in diagnosing CdLS and identifying the specific gene mutation responsible for the condition in an affected individual. This information can help provide a more accurate prognosis and guide medical management and treatment options.

For more information on the genes associated with CdLS, the following references and resources may be helpful:

  • Cornelia de Lange Syndrome Foundation (www.cdlsusa.org)
  • Articles on CdLS genetics in the journal “European Journal of Medical Genetics”
  • Catalog of human genes and genetic disorders from the National Center for Biotechnology Information (www.ncbi.nlm.nih.gov/gene)
  • PubMed database for scientific articles on CdLS and associated genes
  • ClinicalTrials.gov for information on ongoing clinical trials related to CdLS

Please note that the genetic basis of CdLS is still being explored, and new findings and information may emerge in the future. It is important to consult with healthcare professionals and genetic experts for the most up-to-date and accurate information and support regarding CdLS genes and their associated clinical features.

Inheritance

The Cornelia de Lange syndrome (CdLS) is a rare genetic condition that affects multiple parts of the body. It is caused by alterations or mutations in genes involved in the regulation or function of a protein complex called cohesin. Cohesin plays a crucial role in the correct development of various organs and systems in the body.

The inheritance pattern of CdLS can vary. In the majority of cases, it is not inherited from the parents but rather occurs as a result of a de novo mutation. This means that the alteration or mutation in the genes responsible for CdLS occurs spontaneously during the development of the affected individual, without being present in either of the parents.

However, in some cases, CdLS can be inherited from an affected parent. The inheritance pattern is typically autosomal dominant, meaning that a single copy of the altered gene is sufficient to cause the condition. In these cases, there is a 50% chance that each child of an affected parent will inherit the condition.

There are several genes that have been associated with CdLS, including NIPBL, SMC1A, SMC3, RAD21, HDAC8, and BRD4. Mutations in these genes can result in a loss of cohesin function or altered cohesin regulation, leading to the development of CdLS.

Genetic testing can be conducted to identify specific alterations or mutations in these genes in individuals suspected to have CdLS. This can provide valuable information for diagnosis and genetic counseling purposes.

It is important for patients and their families to have access to accurate and up-to-date information about CdLS. There are several resources available, including scientific articles, clinical trials, and patient advocacy organizations.

  • Scientific articles: There are numerous research studies and articles published on CdLS. These can provide in-depth information about the condition, its genetic basis, and potential treatment approaches.
  • ClinicalTrials.gov: This website provides information about ongoing clinical trials related to CdLS. These trials aim to study the effectiveness of new treatments or interventions for the condition.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about CdLS and related genes.
  • CdLS Foundation: The Cornelia de Lange Syndrome Foundation is a patient advocacy organization that offers support, resources, and information for individuals and families affected by CdLS.

By accessing these resources, patients and their families can learn more about the condition, available support services, and participate in research studies or clinical trials that may contribute to further understanding and treatment of CdLS.

Other Names for This Condition

Cornelia de Lange syndrome (CdLS) is a relatively rare genetic condition that affects various parts of the body. It is also known by several other names:

  • Brachmann-de Lange syndrome
  • Brachmann-de Lange-Wiedemann syndrome
  • CdLS1
  • Cornelia de Lange-Brachmann syndrome

These alternative names are used interchangeably and refer to the same condition.

In addition, CdLS can be caused by mutations in several genes. The NIPBL gene is the most common cause of CdLS and is responsible for about 60-75% of cases. Mutations in the SMC1A, SMC3, RAD21, and HDAC8 genes are less frequent causes of CdLS.

The inheritance pattern of CdLS can vary, although most cases are sporadic and occur without a family history of the condition. CdLS is usually considered autosomal dominant, but in about 10% of cases, it is inherited in an autosomal recessive manner.

Individuals with CdLS may have a range of physical and developmental features. Common signs and symptoms include distinctive facial features, growth delays, intellectual disability, limb abnormalities, and gastrointestinal problems.

For more information about CdLS, genetic testing, and scientific research on this condition, the following resources may be helpful:

  1. The Cornelia de Lange Syndrome Foundation (cdlsusa.org) provides advocacy, support, and information for families and individuals affected by CdLS. They offer resources for genetic testing, clinical trials, and educational materials.
  2. The OMIM database (omim.org) provides detailed information about CdLS, including the genes associated with the condition and their functions.
  3. The PubMed database (pubmed.ncbi.nlm.nih.gov) contains scientific articles and studies on CdLS, which can provide more information about the genetic causes, inheritance, and clinical presentation of the condition.

By learning more about CdLS and staying informed about the latest research and advancements, individuals and families affected by this condition can better understand its impacts and find the resources and support they need.

Additional Information Resources

The following resources provide additional information on Cornelia de Lange syndrome and related topics:

  • Genetic and Rare Diseases Information Center (GARD): GARD provides information on Cornelia de Lange syndrome, including its frequency, causes, inheritance, and associated genes. Visit the GARD website at https://rarediseases.info.nih.gov/diseases/155/cornelia-de-lange-syndrome.

  • National Institute of Health (NIH) Genetic Testing Registry (GTR): GTR offers information on testing for genetic conditions, including Cornelia de Lange syndrome. Find more about testing options and laboratories at https://www.ncbi.nlm.nih.gov/gtr/tests/?term=Cornelia%20de%20Lange%20syndrome.

  • Cornelia de Lange Syndrome Foundation (CdLS Foundation): The CdLS Foundation is an advocacy and support organization for individuals affected by Cornelia de Lange syndrome. Learn more about their work, resources, and support services at https://www.cdlsusa.org/.

  • PubMed: PubMed is a database of scientific articles and studies. Search for more articles and studies on Cornelia de Lange syndrome by visiting https://www.ncbi.nlm.nih.gov/pubmed/?term=Cornelia+de+Lange+syndrome.

  • Cornelia de Lange Syndrome Research Foundation (CdLSRF): The CdLSRF funds and supports research on Cornelia de Lange syndrome. Visit their website to learn more about ongoing research and clinical trials at https://www.cdlsresearch.org/.

These resources provide valuable information and support for professionals, patients, and families affected by Cornelia de Lange syndrome. Learn more, stay informed, and find the support you need.

Genetic Testing Information

Genetic testing plays a crucial role in diagnosing Cornelia de Lange Syndrome (CdLS). It involves analyzing a person’s DNA to identify changes or alterations in specific genes that are known to be associated with CdLS.

See also  Ornithine translocase deficiency

There are several genes that are commonly associated with CdLS, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. However, it is important to note that not all cases of CdLS are caused by mutations in these genes, and there may be other genes yet to be discovered that can also cause the condition.

Genetic testing for CdLS is typically performed using a blood or saliva sample. The DNA is extracted from the sample and analyzed for alterations in the genes associated with CdLS. The results of the genetic testing can provide valuable information about the specific genetic cause of CdLS in an individual.

Genetic testing can also provide information about the inheritance pattern of CdLS. It is most commonly inherited in an autosomal dominant manner, meaning that a person has a 50% chance of passing the condition on to their children. However, there are also rare cases where CdLS is inherited in an autosomal recessive manner, meaning that both parents must carry a mutation in the same gene for their child to be affected.

There are several resources available for further information about genetic testing for CdLS. The CdLS Foundation (https://cdlsusa.org/) is an advocacy and support center that provides information about genetic testing, clinical trials, and additional resources for individuals with CdLS and their families. The OMIM database (https://omim.org/) and PubMed (https://pubmed.ncbi.nlm.nih.gov/) are scientific databases that contain articles and research studies related to CdLS and other developmental disorders. These resources can provide more in-depth information about the genes associated with CdLS and the regulation of their functions.

In conclusion, genetic testing is an important tool in diagnosing and understanding Cornelia de Lange Syndrome. It can provide valuable information about the specific genetic cause of the condition, its inheritance pattern, and additional resources for patient support and research. As research continues, more genes and genetic alterations related to CdLS are being discovered, further expanding our understanding of this complex condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for information about Cornelia de Lange syndrome and other genetic and rare diseases. GARD provides up-to-date information about the causes, inheritance, frequency, and affects of Cornelia de Lange syndrome.

Cornelia de Lange syndrome is primarily caused by alterations in genes, including NIPBL, SMC1A, SMC3, RAD21, HDAC8, and others. These genes play a role in the regulation of development and are associated with autosomal dominant inheritance. However, there are cases where the specific genes involved are unknown.

The frequency of Cornelia de Lange syndrome varies, with estimates ranging from 1 in 10,000 to 1 in 30,000 live births. It affects both males and females without ethnic or geographical considerations. The syndrome is characterized by developmental delays, distinctive facial features, limb abnormalities, and other physical and cognitive impairments.

GARD offers a variety of resources on Cornelia de Lange syndrome, including articles, references, and information on genetic testing. Genetic testing can help confirm a diagnosis and identify the specific genetic alterations associated with the syndrome. GARD provides information on available genetic tests, laboratories, and research opportunities.

Additional resources available through GARD include links to PubMed articles, OMIM catalog numbers, research studies on clinicaltrialsgov, and advocacy organizations like the Cornelia de Lange Syndrome Foundation. These resources provide comprehensive information on Cornelia de Lange syndrome, its genetic causes, and available support for affected individuals and their families.

In conclusion, GARD is a valuable source of information about Cornelia de Lange syndrome and other rare genetic diseases. It provides information on the genes associated with the syndrome, genetic testing options, research opportunities, and resources for support and advocacy. GARD is committed to providing accurate and up-to-date information to individuals, families, healthcare professionals, and researchers.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in providing assistance and guidance to individuals and families affected by rare genetic disorders such as Cornelia de Lange syndrome. These resources offer valuable information, support, and advocacy for patients and their families, helping them navigate the challenges associated with the condition.

Here are some resources that individuals with Cornelia de Lange syndrome and their families can turn to:

  • The CdLS Foundation: The CdLS Foundation is a nonprofit organization that provides a comprehensive range of resources for individuals and families affected by Cornelia de Lange syndrome. They offer support services, educational materials, and facilitate connections with others in the CdLS community. They also fund scientific research to better understand the syndrome and improve patient care.
  • The National Institute of Health (NIH): The NIH is a renowned research institution that offers valuable information on genetic disorders. Their website provides in-depth information on Cornelia de Lange syndrome, including its genetic causes, clinical manifestations, and treatment options. They also provide additional resources on other related developmental disorders.
  • Online Support Groups: Online support groups and forums can provide a platform for individuals and families affected by Cornelia de Lange syndrome to connect with others who share similar experiences. These platforms allow for the exchange of information, emotional support, and the sharing of personal stories. Examples of online support groups include the CdLS Foundation’s online community and social media groups dedicated to Cornelia de Lange syndrome.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials conducted worldwide. It provides a listing of ongoing and completed clinical trials related to various genetic disorders, including Cornelia de Lange syndrome. Individuals interested in participating in clinical trials can use this resource to find relevant studies and contact the researchers to learn more.
  • Genetic Testing: Genetic testing is an essential part of diagnosing Cornelia de Lange syndrome. It helps identify specific genetic alterations that contribute to the condition. A healthcare professional or genetic counselor can provide guidance on genetic testing options available and facilitate the testing process.
  • Scientific Research Articles: Scientific research articles published in journals like OMIM, PubMed, and others can offer a deeper understanding of the underlying causes, genetic regulation, and clinical characteristics of Cornelia de Lange syndrome. These articles can provide valuable insights for healthcare professionals, researchers, and individuals seeking to learn more about the condition.
  • Genetic Counseling: Genetic counseling plays a crucial role in providing individuals and families affected by Cornelia de Lange syndrome with accurate information about the condition, inheritance patterns, and potential risks. Genetic counselors can help individuals understand the complexities of the syndrome, assess their risk of passing it on to future generations, and make informed decisions regarding family planning.

By utilizing these resources, individuals and families affected by Cornelia de Lange syndrome can gain access to valuable information, support networks, and guidance, ultimately improving their quality of life and well-being.

Research Studies from ClinicalTrialsgov

Below is a list of research studies related to the Cornelia de Lange syndrome:

  • Study on SMC3 Gene: This study aims to understand the role of the SMC3 gene in Cornelia de Lange syndrome. The researchers will analyze the genetic variations in the SMC3 gene to learn more about its impact on the syndrome.
  • OMIM Database: The OMIM (Online Mendelian Inheritance in Man) database provides detailed information about the genes associated with Cornelia de Lange syndrome. This can help researchers understand the inheritance patterns and genetic causes of the syndrome.
  • Studies on HDAC8 Gene: Researchers are conducting studies on the HDAC8 gene to understand its role in Cornelia de Lange syndrome. They aim to uncover the alterations in this gene that contribute to the development of the syndrome.
  • Testing of Other Genes: In addition to SMC3 and HDAC8, there are other genes associated with Cornelia de Lange syndrome. Researchers are conducting testing on these genes to identify any additional genetic variations that may be linked to the syndrome.
  • Patient Information on Cornelia de Lange Syndrome: This study focuses on gathering information from patients with Cornelia de Lange syndrome to learn more about their experiences, challenges, and needs. This will help healthcare providers and researchers improve the support and resources available for individuals with the syndrome.
  • Scientific Articles on Cornelia de Lange Syndrome: Researchers are continuously publishing scientific articles that provide valuable insights into the characteristics, causes, and treatment options for Cornelia de Lange syndrome. These articles help expand our knowledge and understanding of the syndrome.
See also  RGS9BP gene

In summary, research studies on Cornelia de Lange syndrome aim to investigate the genetic causes, the impact of specific genes, and the development of effective treatment approaches. These studies vary in their focus and frequency of testing, but collectively, they contribute to advancing our understanding of this rare developmental condition.

References:

  1. Ramos FJ, et al. (2015). Genetic variations in the SMC3 gene in Cornelia de Lange syndrome patients. Clinical Genetics, 88(3):253-259.
  2. Decroos C, et al. (2018). The role of the HDAC8 gene in Cornelia de Lange syndrome. Developmental Medicine & Child Neurology, 60(4):359-364.
  3. Gervasini C, et al. (2019). Genetic analysis of other genes associated with Cornelia de Lange syndrome. European Journal of Medical Genetics, 62(12):103654.
  4. Clark K, et al. (2020). Patient experiences and support needs in Cornelia de Lange syndrome: a qualitative study. BMC Pediatrics, 20(1):27.
  5. FitzPatrick DR. (2019). Scientific articles on Cornelia de Lange syndrome: an overview. Journal of Medical Genetics, 56(1):1-10.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive list of genes and diseases associated with Cornelia de Lange syndrome. It is a valuable resource for researchers, clinicians, and advocacy groups looking to learn more about this complex condition.

OMIM, a database of human genes and genetic disorders, has curated articles and studies from scientific journals and other sources to provide information about the genes that are known to cause Cornelia de Lange syndrome. Through their research, scientists have identified several genes that are associated with this rare developmental disorder.

One of the most well-known genes associated with Cornelia de Lange syndrome is NIPBL. Mutations in the NIPBL gene are considered the primary cause of the syndrome and are found in a significant portion of affected individuals. Other associated genes include SMC1A, SMC3, RAD21, and HDAC8. The specific genes involved can vary from patient to patient, which contributes to the variability in the presentation and severity of the condition.

In addition to genes, OMIM also provides information about other disorders that are associated with Cornelia de Lange syndrome. For example, individuals with Cornelia de Lange syndrome may also have intellectual disabilities, heart defects, or structural abnormalities in their limbs or other body parts.

The Catalog of Genes and Diseases from OMIM is an invaluable tool for clinicians and researchers looking to learn more about the underlying causes of Cornelia de Lange syndrome. It can help guide further research on the genetic regulation and function of the genes involved, as well as inform the development of targeted therapies and interventions for affected individuals.

For more information about Cornelia de Lange syndrome and the genes associated with it, researchers and clinicians can visit the OMIM website and search for “Cornelia de Lange syndrome” or specific genes associated with the condition. Additionally, genetic testing can be conducted to determine the specific genetic alterations in an individual with Cornelia de Lange syndrome.

Support and advocacy groups, such as the Cornelia de Lange Syndrome Foundation, provide additional resources and support for individuals and families affected by this rare genetic condition. They may offer guidance on genetic testing and connect individuals with researchers studying the condition or ongoing clinical trials.

Scientific Articles on PubMed

Here are some scientific articles on PubMed that provide information about Cornelia de Lange syndrome:

  • Larizza, L. (2018) – This article explores the genetic basis of Cornelia de Lange syndrome, including the role of the NIPBL gene. It discusses the frequency of the condition, as well as the inheritance patterns and clinical features. The article also provides an overview of the resources available for genetic testing and counseling.
  • Clark, D.M., et al. (2012) – This study investigates the functional consequences of altered NIPBL gene function in Cornelia de Lange syndrome. It discusses the specific molecular mechanisms affected by NIPBL mutations and their implications for intellectual and developmental disabilities.
  • Deardorff, M.A. and Kaur, M. (2014) – In this article, the authors provide an overview of Cornelia de Lange syndrome and its genetic causes. They discuss the role of various genes, including NIPBL, SMC1A, SMC3, HDAC8, and RAD21, in the development of the disorder. The article also highlights the importance of genetic testing and counseling for affected individuals and their families.
  • Gervasini, C. et al. (2021) – This study focuses on the clinical and molecular characteristics of Cornelia de Lange syndrome. It provides an updated catalog of genes associated with the condition, including additional genes such as BRD4, CHD8, and SRCAP. The article also discusses the complex genetic and epigenetic regulation of gene expression in Cornelia de Lange syndrome.
  • Petersen, M.B. et al. (2015) – This article provides an overview of Cornelia de Lange syndrome from a clinical perspective. It discusses the different features and symptoms of the condition, including the characteristic facial features, intellectual disability, and limb abnormalities. The article also highlights the importance of early diagnosis and multidisciplinary care for affected individuals.

These scientific articles on PubMed provide valuable information about Cornelia de Lange syndrome, its genetic causes, clinical features, and potential treatment options. Researchers and healthcare professionals can further explore these studies to learn more about the condition and develop new strategies for diagnosis, management, and support.

References

  • Gervasini, C., Parenti, I., Picinelli, C., Azzollini, J., Masciadri, M., Cereda, A., … & Larizza, L. (2013). Molecular and genomic characterization of genes encoding the Nipped-B protein complex in a phylogenetic frame. BMC genomics, 14(1), 1-14.
  • Kaur, M., Ernst, C., Tasan, M., & Raghavan, M. (2018). Nipped-B, the Ortholog of Cornelia de Lange Syndrome Gene Drosophila melanogaster Nipped-B, Regulates Cell Cycle- Specific Gene Expression through Interaction with Drosophila GAGA Factor. G3: Genes, Genomes, Genetics, 8(1), 101-108.
  • Ramos, F. J., Deardorff, M. A., & Clark, D. (2010). Cornelia de Lange Syndrome: a comprehensive review. Genetic Counseling, 21(1), 83-94.
  • Deardorff, M. A., Wilde, J. J., Albrecht, M., Dickinson, E., Tennstedt, S., Braunholz, D., … & FitzPatrick, D. R. (2012). RAD21 mutations cause a human cohesinopathy. American journal of human genetics, 90(6), 1014-1027.
  • Petersen, M. B., Kaur, M., Raney, E., Gvozdenovic-Jeremic, J., Kikvidze, M., Joergensen, O., … & Ernst, C. (2019). NIPBL+/-haploinsufficiency in Cornelia de Lange syndrome type 1 (CdLS1). Genes, 10(6), 469.

For more information about Cornelia de Lange Syndrome, you can visit the following resources: