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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.

SUBMITTER: Zhang Z 

PROVIDER: S-EPMC3748067 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V.

Zhang Zeng Z   Li Mei M   He Jin-Wei JW   Fu Wen-Zhen WZ   Zhang Chang-Qing CQ   Zhang Zhen-Lin ZL  

PloS one 20130820 8


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 p  ...[more]

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