A homozygous mutation in TMEM38B causes rare osteogenesis imperfecta type XIV / 基础医学与临床

ABSTRACT

Objective To investigate the phenotype of a boy with osteogenesis imperfecta(OI)and detect the path-ogenic gene mutation in his family.Methods The clinical data of a uygur ethnic boy was investigated in detail, who suffered from early onset repeated fragile fractures.Bone turnover biomarkers, bone mineral density(BMD) and bone morphology were evaluated.The pathogenic mutations in this patient were investigated by targeted next-generation sequencing and subsequently confirmed by Sanger sequencing.Results Serum β-cross linked C-te-lopeptide of type Ⅰcollagen was elevated.Radiological assessment revealed a generalized osteoporosis in thoraco-lumbar spine,slender long bone with thin cortices.The pathogenic mutations in TMEM38B were detected as followa homozygous mutation c.507G>A transition in exon 4,which would generate a new downstream termination codon (p.W169X).His parents were heterozygous carriers of the mutation.Conclusions Mutation in TMEM38B is iden-tified for the first time in a uygur ethnic boy with extremely rare autosomal recessive OI type XIV.The clinical and genetic findings expands our understanding of rare OI induced by TMEM38B mutation.