Document Detail


Absence of HOXD10 mutations in idiopathic clubfoot and sporadic vertical talus.
MedLine Citation:
PMID:  17417092     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The genetic etiology of idiopathic clubfoot is unknown. There have been cases reported in which both clubfoot and vertical talus appears in the same family; therefore, the genes responsible for vertical talus are reasonable candidates for idiopathic clubfoot. A mutation in HOXD10 was previously identified in a family with isolated congenital vertical talus. To determine whether HOXD10 is involved in the etiology of idiopathic clubfoot, HOXD10 coding and 5' and 3' untranslated regions were resequenced in 190 patients (177 with clubfoot, 10 with sporadic vertical talus, and 3 with both clubfoot and vertical talus), and 160 ethnically matched control subjects. Rare nonsynonymous HOXD10 amino acid substitutions (Leu154Val, Asn202Lys, and Thr175Ala), likely benign variants, were all detected once in patients and control subjects. Nucleotide substitutions were also identified in HOXD10 intronic and 3' untranslated regions, but were not more frequent in cases compared to controls. To investigate the possibility that unsequenced regulatory regions play a role in this disorder, we performed linkage analysis with markers on chromosome 2q near HOXD10 in one large family. We found no evidence of linkage near the HOXD gene cluster on chromosome 2q, suggesting genes other than HOXD10 are responsible for idiopathic clubfoot.
Authors:
Christina A Gurnett; Cassie Keppel; Jennifer Bick; Anne M Bowcock; Matthew B Dobbs
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical orthopaedics and related research     Volume:  462     ISSN:  0009-921X     ISO Abbreviation:  Clin. Orthop. Relat. Res.     Publication Date:  2007 Sep 
Date Detail:
Created Date:  2007-10-16     Completed Date:  2007-11-01     Revised Date:  2007-12-03    
Medline Journal Info:
Nlm Unique ID:  0075674     Medline TA:  Clin Orthop Relat Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  27-31     Citation Subset:  AIM; IM    
Affiliation:
Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
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MeSH Terms
Descriptor/Qualifier:
Child
Chromosomes, Human, Pair 2
Clubfoot / diagnosis,  genetics*,  metabolism
DNA Mutational Analysis
Female
Genetic Predisposition to Disease*
Homeodomain Proteins / genetics*,  metabolism
Humans
Linkage (Genetics)
Male
Mutation*
Pedigree
Polymorphism, Single Nucleotide / genetics
Talus / abnormalities*
Transcription Factors / genetics*,  metabolism
Grant Support
ID/Acronym/Agency:
K12 NS01690/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/Homeodomain Proteins; 0/Transcription Factors; 145420-66-2/HOXD10 protein, human

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


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