Evaluation of CAND2 and WNT7a as Candidate Genes for Congenital Idiopathic Clubfoot

William Shyy; Frederick Dietz; Matthew B Dobbs; Val C Sheffield; Jose A Morcuende

doi:10.1007/s11999-008-0701-x

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Evaluation of CAND2 and WNT7a as Candidate Genes for Congenital Idiopathic Clubfoot

Journal article

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Evaluation of CAND2 and WNT7a as Candidate Genes for Congenital Idiopathic Clubfoot

William Shyy, Frederick Dietz, Matthew B Dobbs, Val C Sheffield and Jose A Morcuende

Clinical orthopaedics and related research, Vol.467(5), pp.1201-1205

05/2009

DOI: 10.1007/s11999-008-0701-x

PMCID: PMC2664430

PMID: 19159115

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Abstract

Congenital idiopathic clubfoot is a common pediatric musculoskeletal deformity with no known etiology. The deformity reportedly follows a Mendelian pattern of inheritance. Recent work has demonstrated linkage in chromosome 3 and 13 in a large, multigeneration, highly penetrant family with idiopathic clubfoot. From the linkage region on chromosome 3, we selected the candidate genes CAND2 and WNT7a, which are involved in lower extremity development, and hypothesized mutations in these genes would be associated with the phenotype of congenital idiopathic clubfoot. The CAND2 gene was sequenced in 256 clubfoot patients, and 75 control patients, while WNT7a was screened using 56 clubfoot patients and 50 control patients. We found a polymorphism in each gene, but the single nucleotide change in CAND2 was a silent mutation that did not alter the amino acid product, and the single nucleotide change in WNT7a was in the upstream, non-coding or promoter region before the start codon. Based on these results it is unlikely CAND2 and WNT7a are the major genes that causes clubfoot, however WNT7a might be one of many genes that could increase susceptibility to develop clubfoot but do not directly cause it.

Symposium

Etiology and Treatment

Clubfoot

Details

Title: Subtitle: Evaluation of CAND2 and WNT7a as Candidate Genes for Congenital Idiopathic Clubfoot
Creators: William Shyy - Department of Orthopaedic Surgery and Rehabilitation, University of Iowa, 200 Hawkins Drive, 01023 JPP, Iowa City, IA 52242 USA
Frederick Dietz - Department of Orthopaedic Surgery and Rehabilitation, University of Iowa, 200 Hawkins Drive, 01023 JPP, Iowa City, IA 52242 USA
Matthew B Dobbs - Department of Orthopaedic Surgery, Washington University, St. Louis, MO USA
Val C Sheffield - Department of Pediatrics, University of Iowa, Iowa City, IA USA
Jose A Morcuende - Department of Orthopaedic Surgery and Rehabilitation, University of Iowa, 200 Hawkins Drive, 01023 JPP, Iowa City, IA 52242 USA
Resource Type: Journal article
Publication Details: Clinical orthopaedics and related research, Vol.467(5), pp.1201-1205
DOI: 10.1007/s11999-008-0701-x
PMID: 19159115
PMCID: PMC2664430
NLM abbreviation: Clin Orthop Relat Res
ISSN: 0009-921X
eISSN: 1528-1132
Publisher: Springer-Verlag; New York
Language: English
Date published: 05/2009
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Orthopedics and Rehabilitation; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9984040349702771

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