Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

Shah, Hitesh and Joseph, Benjamin (2012) Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. European Journal of Human Genetics, 20. pp. 705-708.

[img] PDF
pitx1.pdf - Published Version
Restricted to Registered users only

Download (320kB) | Request a copy

Abstract

PITX1 is a bicoid-related homeodomain transcription factor implicated in vertebrate hindlimb development. Recently, mutations in PITX1 have been associated with autosomal-dominant clubfoot. In addition, one affected individual showed a polydactyly and right-sided tibial hemimelia. We now report on PITX1 deletions in two fetuses with a high-degree polydactyly, that is, mirror-image polydactyly. Analysis of DNA from additional individuals with isolated lower-limb malformations and higher-degree polydactyly identified a third individual with long-bone deficiency and preaxial polydactyly harboring a heterozygous 35 bp deletion in PITX1. The findings demonstrate that mutations in PITX1 can cause a broad spectrum of isolated lower-limb malformations including clubfoot, deficiency of long bones, and mirror-image polydactyly.

Item Type: Article
Uncontrolled Keywords: limb malformation; mirror-image-polydactyly; PITX1.
Subjects: Medicine > KMC Manipal > Orthopaedics
Depositing User: KMC Manipal
Date Deposited: 10 Sep 2013 04:28
Last Modified: 10 Sep 2013 04:28
URI: http://eprints.manipal.edu/id/eprint/137104

Actions (login required)

View Item View Item