Journal
AMERICAN JOURNAL OF MEDICAL GENETICS
Volume 112, Issue 3, Pages 291-296Publisher
WILEY-LISS
DOI: 10.1002/ajmg.10777
Keywords
brachydactyly type C; growth/differentiation factor 5; cartilage-derived morphogenetic protein 1
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Funding
- NIAMS NIH HHS [AR 45687] Funding Source: Medline
- NICHD NIH HHS [HD 07518, HD22657, HD 07104] Funding Source: Medline
- NIGMS NIH HHS [GM08243] Funding Source: Medline
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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. (C) 2002 Wiley-Liss, Inc.
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