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

MPG-Autoren
http://pubman.mpdl.mpg.de/cone/persons/resource/persons50540

Schwabe,  Georg C.
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

http://pubman.mpdl.mpg.de/cone/persons/resource/persons50605

Türkmen,  Seval
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

http://pubman.mpdl.mpg.de/cone/persons/resource/persons50437

Mundlos,  Stefan
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Zitation

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.


Zitierlink: http://hdl.handle.net/11858/00-001M-0000-0010-88E1-4
Zusammenfassung
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.