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

Eva Klopocki, Christian Kähler, Nicola Foulds, Hitesh Shah, Benjamin Joseph, Hermann Vogel, Sabine Lüttgen, Rainer Bald, Regina Besoke, Karsten Held, Stefan Mundlos, Ingo Kurth

Research output: Contribution to journalArticlepeer-review

39 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)705-708
Number of pages4
JournalEuropean Journal of Human Genetics
Issue number6
Publication statusPublished - 01-06-2012

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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