Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly
- 18 January 2012
- journal article
- case report
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 20 (6), 705-708
- https://doi.org/10.1038/ejhg.2011.264
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.Keywords
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