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Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI
Seyed Mohammad Seyedhassani1,2, Feyzollah Hashemi-Gorji1, Mahdieh Yavari2
1a Genomic Research Center, Shahid Beheshti University of Medical Sciences , Tehran , Iran.
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.
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