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

PLoS One. 2013 Aug 20;8(8):e72337. doi: 10.1371/journal.pone.0072337. eCollection 2013.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5' Untranslated Regions*
  • Adolescent
  • Adult
  • Asian People
  • Bone and Bones / metabolism
  • Bone and Bones / pathology
  • Child
  • Child, Preschool
  • Exons
  • Female
  • Genotype*
  • Heterozygote
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Osteogenesis Imperfecta / ethnology
  • Osteogenesis Imperfecta / genetics*
  • Osteogenesis Imperfecta / pathology
  • Pedigree
  • Phenotype*
  • Point Mutation*

Substances

  • 5' Untranslated Regions
  • IFITM5 protein, human
  • Membrane Proteins

Supplementary concepts

  • Osteogenesis Imperfecta, Type V

Grants and funding

The study was supported by the National Natural Science Foundation of China (81070692, 81000360, 81170803), and Science and Technology Commission of Shanghai Municipality (10DZ1950100) and Academic Leaders in Health Sciences in Shanghai (XBR2011014). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.