期刊
HUMAN MUTATION
卷 34, 期 12, 页码 1589-1596出版社
WILEY
DOI: 10.1002/humu.22430
关键词
Cornelia de Lange syndrome; NIPBL; SMC1A; SMC3; RAD21; HDAC8
资金
- Region of Tuscany
- NIH/NICHD [PO1 HD 052860]
- Center for Cornelia de Lange Syndrome and Related Diagnoses at the Children's Hospital of Philadelphia
Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous developmental disorder. Clinical features include growth retardation, intellectual disability, limb defects, typical facial dysmorphism, and other systemic involvement. The increased understanding of the genetic basis of CdLS has led to diagnostic improvement and expansion of the phenotype. Mutations in five genes (NIPBL, SMC1A, SMC3, RAD21, and HDAC8), all regulators or structural components of cohesin, have been identified. Approximately 60% of CdLS cases are due to NIPBL mutations, 5% caused by mutations in SMC1A, RAD21, and HDAC8 and one proband was found to carry a mutation in SMC3. To date, 311 CdLS-causing mutations are known including missense, nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements. Phenotypic variability is seen both intra- and intergenically. This article reviews the spectrum of CdLS mutations with a particular emphasis on their correlation to the clinical phenotype. (C) 2013 Wiley Periodicals, Inc.
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