Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly
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.
705-708
Klopocki, Eva
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Kähler, Christian
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Foulds, Nicola
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Shah, Hitesh
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Joseph, Benjamin
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Vogel, Hermann
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Lüttgen, Sabine
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Bald, Rainer
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Besoke, Regina
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Held, Karsten
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Mundlos, Stefan
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Kurth, Ingo
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June 2012
Klopocki, Eva
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Kähler, Christian
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Foulds, Nicola
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Shah, Hitesh
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Joseph, Benjamin
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Vogel, Hermann
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Lüttgen, Sabine
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Bald, Rainer
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Besoke, Regina
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Held, Karsten
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Mundlos, Stefan
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Kurth, Ingo
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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), .
(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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Accepted/In Press date: 18 January 2012
Published date: June 2012
Organisations:
Human Development & Health
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Local EPrints ID: 338017
URI: http://eprints.soton.ac.uk/id/eprint/338017
ISSN: 1018-4813
PURE UUID: 4e80e4bd-a1ee-430b-944e-17c386ed875c
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Date deposited: 09 May 2012 14:25
Last modified: 14 Mar 2024 11:01
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Author:
Eva Klopocki
Author:
Christian Kähler
Author:
Nicola Foulds
Author:
Hitesh Shah
Author:
Benjamin Joseph
Author:
Hermann Vogel
Author:
Sabine Lüttgen
Author:
Rainer Bald
Author:
Regina Besoke
Author:
Karsten Held
Author:
Stefan Mundlos
Author:
Ingo Kurth
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