Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI

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, mu...

Full description

Saved in:
Bibliographic Details
Published inFetal and Pediatric Pathology Vol. 35; no. 5; pp. 353 - 358
Main Authors Seyedhassani, Seyed Mohammad, Hashemi-Gorji, Feyzollah, Yavari, Mahdieh, Harazi, Fahimeh, Yassaee, Vahid Reza
Format Report
LanguageEnglish
Published Taylor & Francis 02.09.2016
Subjects
consanguineous
contracture
CRTAP gene
FKBP10 gene
molecular analysis
multiple bone fractures
Osteogenesis imperfect a type XI
Online AccessGet full text

Cover

More Information
Summary: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.
ISSN:1551-3815
1551-3823
DOI:10.1080/15513815.2016.1191567