Deletions of 5' HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus.

ABSTRACT:

Background

Deletions of the HOXC gene cluster result in variable phenotypes in mice, but have been rarely described in humans.

Objective

To report chromosome 12q13.13 microdeletions ranging from 13 to 175 kb and involving the 5' HOXC genes in four families, segregating congenital lower limb malformations, including clubfoot, vertical talus and hip dysplasia.

Methods

Probands (N=253) with clubfoot or vertical talus were screened for point mutations and copy number variants using multiplexed direct genomic selection, a pooled BAC targeted capture approach. SNP genotyping included 1178 probands with clubfoot or vertical talus and 1775 controls.

Results

The microdeletions share a minimal non-coding region overlap upstream of HOXC13, with variable phenotypes dependi

SUBMITTER: Alvarado DM 

PROVIDER: S-EPMC4955942 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature