Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report.

ABSTRACT:

Background

Osteogenesis imperfecta (OI) is a group of connective tissue disorder caused by mutations of genes involved in the production of collagen and its supporting proteins. Although the majority of reported OI variants are in COL1A1 and COL1A2 genes, recent reports have shown problems in other non-collagenous genes involved in the post translational modifications, folding and transport, transcription and proliferation of osteoblasts, bone mineralization, and cell signaling. Up to now, 17 types of OI have been reported in which types I to IV are the most frequent cases with autosomal dominant pattern of inheritance.

Case presentation

Here we report an 8- year- old boy with OI who has had multiple fractures since birth and now he is wheelchair-dependent. To identify genet

SUBMITTER: Maghami F 

PROVIDER: S-EPMC5970456 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature