Document Detail

Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.
MedLine Citation:
PMID:  12784289     Owner:  NLM     Status:  MEDLINE    
Mutations or deletions involving ZFHX1B (previously SIP1) have recently been found to cause one form of syndromic Hirschsprung disease (HSCR), associated with microcephaly, mental retardation, and distinctive facial features. Patients with the characteristic facial phenotype and severe mental retardation, but without HSCR, have now also been shown to have mutations in this gene. Mutations of ZFHX1B are frequently associated with other congenital anomalies, including congenital heart disease, hypospadias, renal tract anomalies, and agenesis of the corpus callosum (ACC). We present the clinical data and mutation analysis results from a series of 23 patients with this clinical syndrome, of whom 21 have proven ZFHX1B mutations or deletions (15 previously unpublished). Two patients with the typical features (one with and one without HSCR) did not have detectable abnormalities of ZFHX1B. We emphasize that this syndrome can be recognized by the facial phenotype in the absence of either HSCR or other congenital anomalies, and needs to be considered in the differential diagnosis of dysmorphism with severe mental retardation +/- epilepsy.
Meredith Wilson; David Mowat; Florence Dastot-Le Moal; Valère Cacheux; Helena Kääriäinen; Danny Cass; Dian Donnai; Jill Clayton-Smith; Sharron Townshend; Cynthia Curry; Michael Gattas; Stephen Braddock; Bronwyn Kerr; Salim Aftimos; Harry Zehnwirth; Catherine Barrey; Michel Goossens
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  119A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Jun 
Date Detail:
Created Date:  2003-06-04     Completed Date:  2004-02-03     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  257-65     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia.
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MeSH Terms
Abnormalities, Multiple / genetics*
Child, Preschool
DNA Mutational Analysis
DNA Probes
Epilepsy / genetics
Face / abnormalities*
Heart Diseases / congenital
Hirschsprung Disease / genetics*
Homeodomain Proteins / genetics*
In Situ Hybridization, Fluorescence
Mental Retardation / genetics*
Microcephaly / genetics
Mutation / genetics*
Polymerase Chain Reaction
Repressor Proteins / genetics*
Zinc Fingers / genetics
Reg. No./Substance:
0/DNA Probes; 0/Homeodomain Proteins; 0/Repressor Proteins; 0/ZEB2 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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