Article
Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.
Human genetics - 1 Nov 2011
Kaneko Hiroshi, Kitoh Hiroshi, Matsuura Tohru, Masuda Akio, Ito Mikako, Mottes Monica, Rauch Frank, Ishiguro Naoki, Ohno Kinji
Abstract excerpt
Autosomal dominant osteogenesis imperfecta (OI) is caused by mutations in COL1A1 or COL1A2. We identified a dominant missense mutation, c.3235G>A in COL1A1 exon 45 predicting p.G1079S, in a Japanese family with mild OI. As mutations in exon 45 exhibit mild to lethal phenotypes, we tested if disruption of an exonic splicing cis-element determines the clinical phenotype, but detected no such mutations. In the...
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