title: Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V.
abstract: Osteogenesis imperfecta (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, c.-14C>T in the 5'-untranslated region of IFITM5, was recently discovered to be involved in this disease. However, in spite of the little genotypic variability, considerable phenotypic variability has been recognized in two cohorts of patients, the majority of whom were Caucasians. Using exome sequencing, we identified the same heterozygous mutation in four Chinese families with OI type V. This study confirms the molecular cause of OI type V and describes the phenotype of Chinese patients with this disorder. In conclusion, the phenotype of Chinese patients was generally similar to that of Caucasian patients.
authors: Department of Orthopedic Surgery, Shanghai Jiao Tong University Affliated the Sixth People's Hospital, Shanghai, PR China.
authors: Zeng
authors: Z
authors: Zhang
authors: Mei
authors: M
authors: Li
authors: Jin-Wei
authors: JW
authors: He
authors: Wen-Zhen
authors: WZ
authors: Fu
authors: Chang-Qing
authors: CQ
authors: Zhang
authors: Zhen-Lin
authors: ZL
authors: Zhang
mesh_terms: D020121:5' Untranslated Regions; D000293:Adolescent; D000328:Adult; D044466:Asian People; D001842:Bone and Bones / Q000378:metabolism / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010013:Osteogenesis Imperfecta / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation
chemical_list: D020121:5' Untranslated Regions; C575746:IFITM5 protein, human; D008565:Membrane Proteins
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