Article
Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.
Bone - 1 Oct 2014
Takeyari Shinji, Yamamoto Takehisa, Kinoshita Yuka, Fukumoto Seiji, Glorieux Francis H, Michigami Toshimi, Hasegawa Kosei, Kitaoka Taichi, Kubota Takuo, Imanishi Yasuo, Shimotsuji Tsunesuke, Ozono Keiichi
Abstract excerpt
BACKGROUND: Hypophosphatemia and increased serum fibroblast growth factor 23 (FGF23) levels have been reported in young brothers with compound heterozygous mutations for the FAM20C gene; however, rickets was not observed in these cases. We report an adult case of Raine syndrome accompanying hypophosphatemic osteomalacia with a homozygous FAM20C mutation (R408W) associated with increased periosteal bone formation...
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