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  Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A

Kalsoom, U. E., Klopocki, E., Wasif, N., Tariq, M., Khan, S., Hecht, J., et al. (2013). Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A. Journal of Medical Genetics, 50(1), 47-53. doi:10.1136/jmedgenet-2012-101219.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-F280-A Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0015-3D52-0
Genre: Journal Article

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Kalsoom, U. E., Author
Klopocki, E.1, 2, Author              
Wasif, N., Author
Tariq, M., Author
Khan, S., Author
Hecht, J.1, Author              
Krawitz, P., Author
Mundlos, S.1, 2, 3, Author              
Ahmad, W.4, Author              
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, Berlin, Germany, ou_1433557              
2Institute for Medical and Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany, ou_persistent22              
3Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charite Universitätsmedizin Berlin, Berlin, Germany, ou_persistent22              
4Department of Bioorganic Chemistry, Prof. Dr. W. Boland, MPI for Chemical Ecology, Max Planck Society, Jena, Germany, ou_24028              

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 Abstract: BACKGROUND: Postaxial polydactyly (PAP) type A is characterised by well-formed functionally developed 5th digit duplication in hands and/or feet. It is genetically heterogeneous condition, inherited both in autosomal recessive and dominant manners. To date one autosomal recessive and four autosomal dominant loci have been mapped on human chromosomes. In the present study we have investigated a consanguineous Pakistani family segregating autosomal recessive PAP type A to identify the gene responsible for this phenotype. METHODS: Whole exome sequencing combined with homozygosity mapping and array comparative genomic hybridisation (aCGH) analysis was used to search for a genetic cause of PAP type A in the present study. RESULTS: Exome sequencing identified a missense mutation (c.1420C>T; p.Thr474Ile) in all the affected individuals of the family, in the gene ZNF141, mapped to the telomeric region on chromosome 4p16.3. CONCLUSION: This study revealed involvement of a zinc finger gene ZNF141 in causing autosomal recessive PAP type A, which may open up interesting perspectives into the function of this protein in limb development.

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Language(s): eng - English
 Dates: 2012-11-172013
 Publication Status: Published in print
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 Rev. Method: Peer
 Identifiers: DOI: 10.1136/jmedgenet-2012-101219
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Title: Journal of Medical Genetics
Source Genre: Journal
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Publ. Info: London : British Medical Association
Pages: - Volume / Issue: 50 (1) Sequence Number: - Start / End Page: 47 - 53 Identifier: ISSN: 0022-2593
CoNE: https://pure.mpg.de/cone/journals/resource/954925415940_2