Document Detail


Germline mosaicism in Cornelia de Lange syndrome.
MedLine Citation:
PMID:  22581668     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Thomas P Slavin; Noam Lazebnik; Dinah M Clark; Jaime Vengoechea; Leslie Cohen; Maninder Kaur; Laura Konczal; Carol A Crowe; Jane E Corteville; Malgorzata J Nowaczyk; Janice L Byrne; Laird G Jackson; Ian D Krantz
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural     Date:  2012-05-11
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  158A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-05-18     Completed Date:  2012-09-24     Revised Date:  2013-12-06    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1481-5     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Wiley Periodicals, Inc.
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MeSH Terms
Descriptor/Qualifier:
De Lange Syndrome / genetics*
Exons
Family
Female
Humans
Male
Mosaicism*
Mutation
Pedigree
Proteins / genetics
Grant Support
ID/Acronym/Agency:
P01 HD052860/HD/NICHD NIH HHS; P01 HD052860/HD/NICHD NIH HHS; P01 HD052860-01/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/NIPBL protein, human; 0/Proteins
Comments/Corrections
Comment In:
Am J Med Genet A. 2013 Jul;161A(7):1827   [PMID:  23696022 ]
Am J Med Genet A. 2013 Jul;161A(7):1825-6   [PMID:  23696053 ]

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