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A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V

Cho, TJ; Lee, KE; Lee, SK; Song, SJ; Kim, KJ; Jeon, D; Lee, G; Kim, HN; Lee, HR; Eom, HH; Lee, ZH; Kim, OH; Park, WY; Park, SS; Ikegawa, S; Yoo, WJ; Choi, IH; Kim, JW
American journal of human genetics, 91(2):343-348, 2012
Journal Title
American journal of human genetics
Osteogenesis imperfecta (OI) is a heterogenous group of genetic disorders of bone fragility. OI type V is an autosomal-dominant disease characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation; the causative mutation involved in this disease has not been discovered yet. Using linkage analysis in a four-generation family and whole-exome sequencing, we identified a heterozygous mutation of c.-14C>T in the 5'-untranslated region of a gene encoding interferon-induced transmembrane protein 5 (IFITM5). It completely cosegregated with the disease in three families and occurred de novo in five simplex individuals. Transfection of wild-type and mutant IFITM5 constructs revealed that the mutation added five amino acids (Met-Ala-Leu-Glu-Pro) to the N terminus of IFITM5. Given that IFITM5 expression and protein localization is restricted to the skeletal tissue and IFITM5 involvement in bone formation, we conclude that this recurrent mutation would have a specific effect on IFITM5 function and thus cause OI type V.
MeSH terms
5' Untranslated Regions/geneticsAdolescentAdultAmino Acid SequenceBase SequenceChildExome/geneticsFemaleGenetic LinkageHumansMaleMembrane Proteins/*geneticsMolecular Sequence DataOsteogenesis Imperfecta/*genetics/radiographyPoint Mutation/geneticsSequence Analysis, DNA
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Journal Papers > School of Medicine / Graduate School of Medicine > Radiology
AJOU Authors
김, 옥화
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