Document Detail

Mutation update on the CHD7 gene involved in CHARGE syndrome.
MedLine Citation:
PMID:  22461308     Owner:  NLM     Status:  MEDLINE    
CHD7 is a member of the chromodomain helicase DNA-binding (CHD) protein family that plays a role in transcription regulation by chromatin remodeling. Loss-of-function mutations in CHD7 are known to cause CHARGE syndrome, an autosomal-dominant malformation syndrome in which several organ systems, for example, the central nervous system, eye, ear, nose, and mediastinal organs, are variably involved. In this article, we review all the currently described CHD7 variants, including 183 new pathogenic mutations found by our laboratories. In total, we compiled 528 different pathogenic CHD7 alterations from 508 previously published patients with CHARGE syndrome and 294 unpublished patients analyzed by our laboratories. The mutations are equally distributed along the coding region of CHD7 and most are nonsense or frameshift mutations. Most mutations are unique, but we identified 94 recurrent mutations, predominantly arginine to stop codon mutations. We built a locus-specific database listing all the variants that is easily accessible at In addition, we summarize the latest data on CHD7 expression studies, animal models, and functional studies, and we discuss the latest clinical insights into CHARGE syndrome.
Nicole Janssen; Jorieke E H Bergman; Morris A Swertz; Lisbeth Tranebjaerg; Marianne Lodahl; Jeroen Schoots; Robert M W Hofstra; Conny M A van Ravenswaaij-Arts; Lies H Hoefsloot
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2012-04-16
Journal Detail:
Title:  Human mutation     Volume:  33     ISSN:  1098-1004     ISO Abbreviation:  Hum. Mutat.     Publication Date:  2012 Aug 
Date Detail:
Created Date:  2012-07-18     Completed Date:  2012-11-28     Revised Date:  2013-02-11    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1149-60     Citation Subset:  IM    
Copyright Information:
© 2012 Wiley Periodicals, Inc.
Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
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MeSH Terms
CHARGE Syndrome / genetics*
DNA Helicases / genetics*
DNA-Binding Proteins / genetics*
Reg. No./Substance:
0/DNA-Binding Proteins; EC 3.6.1.-/DNA Helicases; EC protein, human

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