title: Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI.
abstract: Osteogenesis imperfecta (OI) is a set of clinically and genetically heterogeneous disorders with autosomal dominant, recessive and X-linked inheritance patterns. The aim of this study was to describe a novel genetic abnormality in a case of OI type XI with mild joint contractures, kyphoscoliosis, muscular atrophy, progressively deforming and multiple bone fractures in a consanguineous Iranian family. Based on the phenotype, investigation of two candidate genes, CRTAP (OI type VII) and FKBP10 (OI type XI) detected a novel homozygous frameshift mutation in the FKBP10 gene. This finding can be useful in accurate genetic counseling and prioritization of molecular analysis of OI in Iranian patients.
authors.affiliation: a Genomic Research Center, Shahid Beheshti University of Medical Sciences , Tehran , Iran.|b Dr. Seyedhassani Medical Genetic Center , Yazd , Iran.
authors.forename: Seyed Mohammad
authors.initials: SM
authors.lastname: Seyedhassani
authors.affiliation: a Genomic Research Center, Shahid Beheshti University of Medical Sciences , Tehran , Iran.
authors.forename: Feyzollah
authors.initials: F
authors.lastname: Hashemi-Gorji
authors.affiliation: b Dr. Seyedhassani Medical Genetic Center , Yazd , Iran.
authors.forename: Mahdieh
authors.initials: M
authors.lastname: Yavari
authors.affiliation: b Dr. Seyedhassani Medical Genetic Center , Yazd , Iran.
authors.forename: Fahimeh
authors.initials: F
authors.lastname: Harazi
authors.affiliation: a Genomic Research Center, Shahid Beheshti University of Medical Sciences , Tehran , Iran.
authors.forename: Vahid Reza
authors.initials: VR
authors.lastname: Yassaee
mesh_terms: D002648:Child; D016368:Frameshift Mutation; D006801:Humans; D007492:Iran; D008297:Male; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D022021:Tacrolimus Binding Proteins / Q000235:genetics*
chemical_list: D022021:Tacrolimus Binding Proteins; C110054:FKBP10 protein, human
keywords: CRTAP gene; FKBP10 gene; Osteogenesis imperfect a type XI; consanguineous; contracture; molecular analysis; multiple bone fractures