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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2002-10-1
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pubmed:abstractText |
Growth/differentiation factor-5 (GDF5), also known as cartilage-derived morphogenetic protein-1 (CDMP-1), is a secreted signaling molecule that participates in skeletal morphogenesis. Heterozygous mutations in GDF5, which maps to human chromosome 20, occur in individuals with autosomal dominant brachydactyly type C (BDC). Here we show that BDC is locus homogeneous by reporting a GDF5 frameshift mutation segregating with the phenotype in a family whose trait was initially thought to map to human chromosome 12. We also describe heterozygous mutations in nine additional probands/families with BDC and show nonpenetrance in a mutation carrier. Finally, we show that mutant GDF5 polypeptides containing missense mutations in their active domains do not efficiently form disulfide-linked dimers when expressed in vitro. These data support the hypothesis that BDC results from functional haploinsufficiency for GDF5.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0148-7299
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pubmed:author |
pubmed-author:BartelsCynthia FCF,
pubmed-author:EvermanDavid BDB,
pubmed-author:FrancomanoClair ACA,
pubmed-author:GaleRobert PeterRP,
pubmed-author:GoodmanFrances RFR,
pubmed-author:GovindaiahVinukondaV,
pubmed-author:GrahamJohn MJMJr,
pubmed-author:KleckersAlbert RAR,
pubmed-author:Mendoza-LondonoJ RobertoJR,
pubmed-author:MorrisonStuartS,
pubmed-author:NewmanWilliam GWG,
pubmed-author:SavarirayanRaviR,
pubmed-author:SinghLaljiL,
pubmed-author:SvarchEvaE,
pubmed-author:ThomasJ TerrigJT,
pubmed-author:WarmanMatthew LML,
pubmed-author:WhiteSusan MSM,
pubmed-author:YanamandraNiranjanN,
pubmed-author:YangYueY
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pubmed:copyrightInfo |
Copyright 2002 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
112
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
291-6
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:12357473-Animals,
pubmed-meshheading:12357473-Bone Morphogenetic Proteins,
pubmed-meshheading:12357473-COS Cells,
pubmed-meshheading:12357473-Female,
pubmed-meshheading:12357473-Frameshift Mutation,
pubmed-meshheading:12357473-Gene Expression,
pubmed-meshheading:12357473-Growth Differentiation Factor 5,
pubmed-meshheading:12357473-Hand Deformities, Congenital,
pubmed-meshheading:12357473-Heterozygote,
pubmed-meshheading:12357473-Humans,
pubmed-meshheading:12357473-Male,
pubmed-meshheading:12357473-Models, Genetic,
pubmed-meshheading:12357473-Mutation,
pubmed-meshheading:12357473-Mutation, Missense,
pubmed-meshheading:12357473-Pedigree,
pubmed-meshheading:12357473-Phenotype
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pubmed:year |
2002
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pubmed:articleTitle |
The mutational spectrum of brachydactyly type C.
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pubmed:affiliation |
Department of Genetics, Case Western Reserve University, Cleveland, Ohio 44106, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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