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  Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1

Schwabe, G. C., Türkmen, S., Leschik, G., Palanduz, S., Stöver, B., Goecke, T. O., et al. (2004). Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. American Journal of Medical Genetics, 124A(4), 356-363. doi:10.1002/ajmg.a.20349.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-88E1-4 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-88E2-2
Genre: Journal Article
Alternative Title : Am J Med Genet

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 Creators:
Schwabe, Georg C.1, Author              
Türkmen, Seval2, Author              
Leschik, Gundula, Author
Palanduz, Sukru, Author
Stöver, Brigitte, Author
Goecke, Timm O., Author
Mundlos, Stefan1, Author              
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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Free keywords: brachydactyly; CDMP1; Gdf5; TGF-Beta; prodomain; MCPP
 Abstract: Brachydactyly type C (BDC) is characterized by shortening of the middle phalanges of the index, middle, and little finger with hyperphalangy, usually of the index and middle finger. Heterozygous mutations of the cartilage derived morphogenetic protein-1 (CDMP1) resulting in a loss of function have been reported in BDC. We here describe a large kindred with a semi-dominant form of BDC and pronounced ulnar deviation of the second and third digits. In this family a novel homozygous missense mutation was identified (517A > G) changing methionine to valine at amino acid position 173. The mutation is located within a highly conserved seven amino acid region of the prodomain of CDMP1. Hand radiographs of heterozygous mutation carriers showed mild shortening of the metacarpals IV and V; a finding confirmed by the analysis of their metacarpophalangeal profiles (MCPPs). The mutation described here points toward an important function of the prodomain for the folding, secretion, and availability of biologically active CDMP1.

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Language(s): eng - English
 Dates: 2004-02-01
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 228869
DOI: 10.1002/ajmg.a.20349
 Degree: -

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Title: American Journal of Medical Genetics
  Alternative Title : Am J Med Genet
Source Genre: Journal
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Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 124A (4) Sequence Number: - Start / End Page: 356 - 363 Identifier: ISSN: 1552-4825