Document Detail


A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly.
MedLine Citation:
PMID:  22786669     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Limb malformations are one of the most common types of human congenital malformations. Mutations in the ZRS enhancer of Sonic Hedgehog are thought to be responsible for pre-axial polydactyly in multiple independent families. Here, we describe a large Balochi tribal family from Southern Punjab, Pakistan, with a variable set of limb malformations and a novel ZRS mutation. The family has a limb phenotype characterized by triphalangeal thumb, pre-axial polydactyly, and post-axial polydactyly. There is also a high degree of phenotypic heterogeneity with less common clinical findings in the affected family members that include osseous syndactyly of forth-fifth fingers, clinodactyly, hypoplasia of mesoaxial fingers, and bifid halluces. The presentation in most of the affected patients was bilateral and symmetrical. A heterozygous C>A mutation at position 287 of the ZRS enhancer (chr7:156,584,283; hg19) was detected in all affected subjects and is absent from four unaffected family members, 42 unrelated samples, and multiple databases of human variation. Combined, these results identify a novel ZRS287 C>A mutation which leads to a variable spectrum of limb phenotypes.
Authors:
Julia E VanderMeer; Muhammad Afzal; Saadia Alyas; Sayedul Haque; Nadav Ahituv; Sajid Malik
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2012-07-11
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 Aug 
Date Detail:
Created Date:  2012-07-23     Completed Date:  2012-11-05     Revised Date:  2013-08-12    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2031-5     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Wiley Periodicals, Inc.
Affiliation:
Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California 94143, USA.
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MeSH Terms
Descriptor/Qualifier:
Enhancer Elements, Genetic*
Female
Hand Deformities, Congenital / genetics*
Hedgehog Proteins / genetics*
Humans
Male
Membrane Proteins / genetics*
Mutation*
Pakistan
Pedigree
Grant Support
ID/Acronym/Agency:
R01 HD059862/HD/NICHD NIH HHS; R01HD059862/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/Hedgehog Proteins; 0/LMBR1 protein, human; 0/Membrane Proteins; 0/SHH protein, human
Comments/Corrections

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