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- Title
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.
- Authors
Klopocki, Eva; Kähler, Christian; Foulds, Nicola; Shah, Hitesh; Joseph, Benjamin; Vogel, Hermann; Lüttgen, Sabine; Bald, Rainer; Besoke, Regina; Held, Karsten; Mundlos, Stefan; Kurth, Ingo
- 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.
- Publication
European journal of human genetics : EJHG, 2012, Vol 20, Issue 6, p705
- ISSN
1476-5438
- Publication type
Journal Article
- DOI
10.1038/ejhg.2011.264