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Cornelia de Lange syndrome.

M I Boyle1, C Jespersgaard1, K Brøndum-Nielsen1

  • 1Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Glostrup, Denmark.

Clinical Genetics
|September 12, 2014
PubMed
Summary
This summary is machine-generated.

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder affecting multiple organs, causing intellectual disability and distinctive features. Mutations in five genes explain 70% of CdLS cases, with ongoing research into diagnosis and counseling.

Keywords:
Cornelia de Lange syndromeHDAC8NIPBLRAD21SMC1ASMC3

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Area of Science:

  • Genetics
  • Medical Genetics
  • Developmental Biology

Background:

  • Cornelia de Lange syndrome (CdLS) is a rare, clinically heterogeneous genetic disorder impacting multiple organ systems.
  • Key features include intellectual disability, distinctive facial morphology, growth retardation, hirsutism, and congenital anomalies affecting limbs, gastrointestinal, cardiac, and genitourinary systems.
  • Gastroesophageal reflux disease is nearly universal in CdLS patients.

Purpose of the Study:

  • To review the clinical manifestations of Cornelia de Lange syndrome.
  • To summarize the genetic underpinnings of CdLS, including identified genes and mutation frequencies.
  • To discuss diagnostic approaches and genetic counseling strategies for CdLS.

Main Methods:

  • Literature review of clinical and genetic studies on Cornelia de Lange syndrome.
  • Compilation of data on associated genes (NIPBL, SMC1A, SMC3, RAD21, HDAC8) and their mutation prevalence.
  • Synthesis of information regarding diagnostic methods and genetic counseling principles.

Main Results:

  • Five genes (NIPBL, SMC1A, SMC3, RAD21, HDAC8) are associated with CdLS, accounting for the genetic defect in approximately 70% of affected individuals.
  • CdLS presents with a spectrum of phenotypes, from classic to milder forms.
  • Comprehensive understanding of clinical features aids in diagnosis and management.

Conclusions:

  • Genetic mutations in NIPBL, SMC1A, SMC3, RAD21, and HDAC8 are the primary cause of CdLS in a majority of patients.
  • Accurate diagnosis relies on recognizing characteristic clinical features and genetic testing.
  • Genetic counseling is crucial for families affected by CdLS to understand inheritance patterns and recurrence risks.