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 journalArticle

19 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)705-708
Number of pages4
JournalEuropean Journal of Human Genetics
Volume20
Issue number6
DOIs
Publication statusPublished - 01-06-2012

Fingerprint

Polydactyly
Lower Extremity
Clubfoot
Bone and Bones
Mutation
Hindlimb
Vertebrates
Fetus
Transcription Factors
Laurin-Sandrow syndrome
DNA

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Klopocki, Eva ; Kähler, Christian ; Foulds, Nicola ; Shah, Hitesh ; Joseph, Benjamin ; Vogel, Hermann ; Lüttgen, Sabine ; Bald, Rainer ; Besoke, Regina ; Held, Karsten ; Mundlos, Stefan ; Kurth, Ingo. / Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. In: European Journal of Human Genetics. 2012 ; Vol. 20, No. 6. pp. 705-708.
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Klopocki, E, Kähler, C, Foulds, N, Shah, H, Joseph, B, Vogel, H, Lüttgen, S, Bald, R, Besoke, R, Held, K, Mundlos, S & Kurth, I 2012, 'Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly', European Journal of Human Genetics, vol. 20, no. 6, pp. 705-708. https://doi.org/10.1038/ejhg.2011.264

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; Kurth, Ingo.

In: European Journal of Human Genetics, Vol. 20, No. 6, 01.06.2012, p. 705-708.

Research output: Contribution to journalArticle

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AU - Klopocki, Eva

AU - Kähler, Christian

AU - Foulds, Nicola

AU - Shah, Hitesh

AU - Joseph, Benjamin

AU - Vogel, Hermann

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AU - Bald, Rainer

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AU - Held, Karsten

AU - Mundlos, Stefan

AU - Kurth, Ingo

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