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

Klopocki, Eva, Kähler, Christian, Foulds, Nicola, Shah, Hitesh, Joseph, Benjamin, Vogel, Hermann, Lüttgen, Sabine, Bald, Rainer, Besoke, Regina, Held, Karsten, Mundlos, Stefan and Kurth, Ingo (2012) Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. European Journal of Human Genetics, 20 (6), 705-708. (doi: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.

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