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

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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: EUR J HUM GENET, Jahrgang 20, Nr. 6, 6, 2012, S. 705-708.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

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.', EUR J HUM GENET, Jg. 20, Nr. 6, 6, S. 705-708. <http://www.ncbi.nlm.nih.gov/pubmed/22258522?dopt=Citation>

APA

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. EUR J HUM GENET, 20(6), 705-708. [6]. http://www.ncbi.nlm.nih.gov/pubmed/22258522?dopt=Citation

Vancouver

Klopocki E, Kähler C, Foulds N, Shah H, Joseph B, Vogel H et al. Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. EUR J HUM GENET. 2012;20(6):705-708. 6.

Bibtex

@article{30e9e6735c5643bfbe608bc2fddeff55,
title = "Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.",
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.",
author = "Eva Klopocki and Christian K{\"a}hler and Nicola Foulds and Hitesh Shah and Benjamin Joseph and Hermann Vogel and Sabine L{\"u}ttgen and Rainer Bald and Regina Besoke and Karsten Held and Stefan Mundlos and Ingo Kurth",
year = "2012",
language = "English",
volume = "20",
pages = "705--708",
journal = "EUR J HUM GENET",
issn = "1018-4813",
publisher = "NATURE PUBLISHING GROUP",
number = "6",

}

RIS

TY - JOUR

T1 - Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.

AU - Klopocki, Eva

AU - Kähler, Christian

AU - Foulds, Nicola

AU - Shah, Hitesh

AU - Joseph, Benjamin

AU - Vogel, Hermann

AU - Lüttgen, Sabine

AU - Bald, Rainer

AU - Besoke, Regina

AU - Held, Karsten

AU - Mundlos, Stefan

AU - Kurth, Ingo

PY - 2012

Y1 - 2012

N2 - 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.

AB - 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.

M3 - SCORING: Journal article

VL - 20

SP - 705

EP - 708

JO - EUR J HUM GENET

JF - EUR J HUM GENET

SN - 1018-4813

IS - 6

M1 - 6

ER -