HOXD10 M319K mutation in a family with isolated congenital vertical talus

Matthew B Dobbs; Christina A Gurnett; Brandon Pierce; G Ulrich Exner; Jason Robarge; Jose A Morcuende; William G Cole; Peter A Templeton; Bruce Foster; Anne M Bowcock

doi:10.1002/jor.20052

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HOXD10 M319K mutation in a family with isolated congenital vertical talus

Journal article

Open access

Peer reviewed

HOXD10 M319K mutation in a family with isolated congenital vertical talus

Matthew B Dobbs, Christina A Gurnett, Brandon Pierce, G Ulrich Exner, Jason Robarge, Jose A Morcuende, William G Cole, Peter A Templeton, Bruce Foster and Anne M Bowcock

Journal of orthopaedic research, Vol.24(3), pp.448-453

03/2006

DOI: 10.1002/jor.20052

PMID: 16450407

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Abstract

Congenital vertical talus (CVT) is a primary dislocation of the talonavicular joint that often occurs in neuromusculoskeletal syndromes, but may also be seen as an isolated abnormality. Six families with isolated CVT were ascertained. DNA was isolated from 21 affected individuals and 17 unaffected individuals from these families, as well as from five sporadic patients with CVT. Variable expressivity was noted in three families, manifesting as clubfoot in three individuals. Genome-wide linkage analysis generated a maximum two-point logarithm of odds score on chromosome 2q with D2S1353 (Zmax = 1.43 at theta(max) = 0.1), 17 Mb from the HOXD gene cluster. DNA from one affected individual of each family was subjected to mutational analysis of the HOXD10 gene. A single missense mutation was identified (M319K, 956T > A) in the homeodomain recognition helix of the HOXD10 gene that segregated with disease in one large British family. This mutation was recently described in a family of Italian descent with CVT and Charcot-Marie-Tooth deformity HOXD10 gene mutations were not identified in any of the other families or sporadic patients with CVT, suggesting that genetic heterogeneity underlies this disorder.

Genetic Predisposition to Disease

Homeodomain Proteins - metabolism

Humans

Talus - abnormalities

European Continental Ancestry Group

Foot Deformities, Congenital - genetics

Male

Transcription Factors - genetics

Homeodomain Proteins - genetics

Mutation, Missense - genetics

Chromosomes, Human, Pair 2

Transcription Factors - metabolism

DNA Mutational Analysis

Pedigree

Female

Genetic Linkage

Details

Title: Subtitle: HOXD10 M319K mutation in a family with isolated congenital vertical talus
Creators: Matthew B Dobbs - Department of Orthopedic Surgery, Washington University School of Medicine, One Child Place, Suite 45 Saint Louis, Missouri 63110, USA. dobbsm@msnotes.wustl.edu
Christina A Gurnett
Brandon Pierce
G Ulrich Exner
Jason Robarge
Jose A Morcuende
William G Cole
Peter A Templeton
Bruce Foster
Anne M Bowcock
Resource Type: Journal article
Publication Details: Journal of orthopaedic research, Vol.24(3), pp.448-453
DOI: 10.1002/jor.20052
PMID: 16450407
NLM abbreviation: J Orthop Res
ISSN: 0736-0266
eISSN: 1554-527X
Publisher: United States
Grant note: K12 NS01690 / NINDS NIH HHS
Language: English
Date published: 03/2006
Academic Unit: Stead Family Department of Pediatrics; Orthopedics and Rehabilitation
Record Identifier: 9984040301402771

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