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.

KEYWORDS:

• Osteogenesis imperfect a type XI
• contracture
• multiple bone fractures
• consanguineous
• FKBP10 gene
• CRTAP gene
• molecular analysis

ClinVar accession number

The new mutation identified in this study was submitted to ClinVar database with accession number SCV000257567.1.

Acknowledgments

The authors would like to thank the family that participated in this study.

Declaration of interest

The authors declare no financial or commercial conflict of interest to report.