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Accepted (AM)Open Access (License Unspecified), Open
Journal article
Germline mosaicism in Cornelia de Lange syndrome
American journal of medical genetics. Part A, v 158A(6), pp 1481-1485
01 Jun 2012
PMID: 22581668
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Cornelia de Lange syndrome (CdLS) is a genetic disorder associated with delayed growth, intellectual disability, limb reduction defects, and characteristic facial features. Germline mosaicism has been a described mechanism for CdLS when there are several affected offspring of apparently unaffected parents. Presently, the recurrence risk for CdLS has been estimated to be as high as 1.5%; however, this figure may be an underrepresentation. We report on the molecularly defined germline mosaicism cases from a large CdLS database, representing the first large case series on germline mosaicism in CdLS. Of the 12 families, eight have been previously described; however, four have not. No one specific gene mutation, either in the NIPBL or the SMC1A gene, was associated with an increased risk for germline mosaicism. Suspected or confirmed cases of germline mosaicism in our database range from a conservative 3.4% up to 5.4% of our total cohort. In conclusion, the potential reproductive recurrence risk due to germline mosiacism should be addressed in prenatal counseling for all families who have had a previously affected pregnancy or child with CdLS. (c) 2012 Wiley Periodicals, Inc.
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Details
- Title
- Germline mosaicism in Cornelia de Lange syndrome
- Creators
- Thomas P. Slavin - University Hospitals Cleveland Medical CenterNoam Lazebnik - University Hospitals of ClevelandDinah M. Clark - Children's Hospital of PhiladelphiaJaime Vengoechea - University Hospitals Cleveland Medical CenterLeslie Cohen - University Hospitals Cleveland Medical CenterManinder Kaur - Children's Hospital of PhiladelphiaLaura Konczal - University Hospitals Cleveland Medical CenterCarol A. Crowe - MetroHealthJane E. Corteville - University Hospitals of ClevelandMalgorzata J. Nowaczyk - McMaster UniversityJanice L. Byrne - University of UtahLaird G. Jackson - Drexel UniversityIan D. Krantz - University of Pennsylvania
- Publication Details
- American journal of medical genetics. Part A, v 158A(6), pp 1481-1485
- Publisher
- Wiley
- Number of pages
- 5
- Grant note
- PO1 HD052860 / NICHD; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD) P01HD052860 / EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
- Resource Type
- Journal article
- Language
- English
- Web of Science ID
- WOS:000304133700038
- Scopus ID
- 2-s2.0-84861225695
- Other Identifier
- 991019350598204721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Genetics & Heredity