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  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., 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.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-F26C-9 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0014-9F70-E
Genre: Journal Article

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© 2012 European Society of Human Genetics
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 Creators:
Klopocki, E.1, 2, Author              
Kaehler, C.3, Author              
Foulds, N., Author
Shah, H., Author
Joseph, B., Author
Vogel, H., Author
Luttgen, S., Author
Bald, R., Author
Besoke, R., Author
Held, K.4, Author              
Mundlos, S.1, 2, 5, Author              
Kurth, I., Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, Berlin, Germany, ou_1433557              
2Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmedizin Berlin, Berlin, Germany, ou_persistent22              
3Neurodegenerative Disorders (Sylvia Krobitsch), Independent Junior Research Groups (OWL), Max Planck Institute for Molecular Genetics, Max Planck Society, Berlin, Germany, ou_1479661              
4AG Steiger, Axel, Florian Holsboer (Direktor), Max Planck Institute of Psychiatry, Max Planck Society, München, Germany, ou_1607160              
5Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité -Universitätsmedizin Berlin, Berlin, Germany, ou_persistent22              

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Free keywords: Bone Diseases, Developmental/genetics/metabolism Clubfoot/genetics/pathology Ectromelia/genetics/metabolism Gene Expression Regulation, Developmental Heterozygote Humans Lower Extremity/embryology/ pathology Paired Box Transcription Factors/ genetics Polydactyly/ genetics/pathology Sequence Deletion Tibia/abnormalities/metabolism
 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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Language(s): eng - English
 Dates: 2012-01-182012-06
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1038/ejhg.2011.264
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Title: European journal og human genetics : EJHG ; the official journal of the European Society of Human Genetics
  Other : Eur J Hum Genet
Source Genre: Journal
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Publ. Info: Basel : Karger
Pages: - Volume / Issue: 20 (6) Sequence Number: - Start / End Page: 705 - 708 Identifier: ISSN: 1018-4813
CoNE: https://pure.mpg.de/cone/journals/resource/954925585277_2