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

Klopocki, E.; Kaehler, C.; Foulds, N.; Shah, H.; Joseph, B.; Vogel, H.; Luttgen, S.; Bald, R.; Besoke, R.; Held, K.; Mundlos, S.; Kurth, I.

doi:10.1038/ejhg.2011.264

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

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Klopocki, E.
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;
Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmedizin Berlin;

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Kaehler, C.
Neurodegenerative Disorders (Sylvia Krobitsch), Independent Junior Research Groups (OWL), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Held, K.
AG Steiger, Axel, Florian Holsboer (Direktor), Max Planck Institute of Psychiatry, Max Planck Society;

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Mundlos, S.
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;
Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmedizin Berlin;
Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité -Universitätsmedizin Berlin;

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Citation

Klopocki, E., Kaehler, C., Foulds, N., Shah, H., Joseph, B., Vogel, H., et al. (2012). Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. European journal og human genetics: EJHG; the official journal of the European Society of Human Genetics, 20(6), 705-708. doi:10.1038/ejhg.2011.264.

Cite as: https://hdl.handle.net/11858/00-001M-0000-000E-F26C-9

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.