Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation

Matthew B Dobbs; Christina A Gurnett; Jason Robarge; J Eric Gordon; Jose A Morcuende; Anne M Bowcock

doi:10.1016/j.orthres.2005.04.011

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Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation

Journal article

Peer reviewed

Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation

Matthew B Dobbs, Christina A Gurnett, Jason Robarge, J Eric Gordon, Jose A Morcuende and Anne M Bowcock

Journal of orthopaedic research, Vol.23(6), pp.1490-1494

11/2005

DOI: 10.1016/j.orthres.2005.04.011

PMID: 16005596

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Abstract

Isolated foot anomalies, including congenital vertical talus, were shown recently to occur in heterozygous carriers of CDMP-1 (cartilage-derived morphogenetic protein-1) gene mutations. Six families with isolated congenital vertical talus with apparent autosomal dominant inheritance were ascertained. DNA was isolated from 17 affected individuals and 24 unaffected individuals from these families and subjected to mutational analysis of the CDMP-1 gene. A missense mutation was identified (1312C>T) that results in an R438C substitution in the CDMP-1 active domain. This segregated with disease in one Northeren American family. Phenotypic variability in this family includes brachydactyly type C, clinodactyly, calcaneo valgus deformity, and congenital vertical talus. Metacarpophalangeal profiles (MCPPs) confirm incomplete penetrance in one family member. Hence, CDMP-1 mutations may be found in individuals with apparently isolated CVT, although careful examination of family members may reveal additional, subtle hand and foot abnormalities. However, mutations in CDMP-1 do not appear to be a frequent cause of isolated congenital vertical talus.

Mutation

Growth Differentiation Factor 5

Hand Deformities, Congenital - genetics

Humans

Talus - abnormalities

Female

Foot Deformities, Congenital - genetics

Male

Bone Morphogenetic Proteins - genetics

Details

Title: Subtitle: Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation
Creators: Matthew B Dobbs - Department of Orthopedic Surgery, Washington University School of Medicine, One Children's Place, Suite 4S20, St. Louis, MO 63110, USA. dobbsm@msnotes.wustl.edu
Christina A Gurnett
Jason Robarge
J Eric Gordon
Jose A Morcuende
Anne M Bowcock
Resource Type: Journal article
Publication Details: Journal of orthopaedic research, Vol.23(6), pp.1490-1494
Publisher: United States
DOI: 10.1016/j.orthres.2005.04.011
PMID: 16005596
ISSN: 0736-0266
eISSN: 1554-527X
Grant note: K12 NS01690 / NINDS NIH HHS
Language: English
Date published: 11/2005
Academic Unit: Stead Family Department of Pediatrics; Orthopedics and Rehabilitation
Record Identifier: 9984040534902771

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