الفهرس 
Title: Mutation analysis of FKBP10 and SERPINF1 genes in autosomal recessive osteogenesis imperfecta patients
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Abstract
Osteogenesis imperfecta (OI) is a clinically heterogeneous heritable connective tissue disorder characterized by recurrent fragile fractures of bones. About 90% of OI cases are of autosomal dominant forms, caused by mutations in COL1A1 and COL1A2 genes. Recessive OI forms are caused by mutations in collagen modification-related genes. Recessive forms incidence of OI is increasing among Egyptians due to high consanguinity rate. Mutations in SERPINF1 and FKBP10 genes cause autosomal recessive OI types VI and XI respectively. Our aim was to identify pathogenic mutations within those two gene among Egyptian OI patients. Phenotypic features of OI patients were investigated by evaluating X-rays and bone mineral density. Eighteen patients with moderate-to-severe bone fragility, significant low bone mineral density, and severe deformities were recruited from 18 unrelated families for this study after obtaining informed consent forms. We performed sanger sequencing for all exons of the two genes. Two homozygous pathogenic mutations in SERPINF1 gene were identified; a novel homozygous 37-bp deletion in exon 8 (c.1217_1253del37, p.L406PfsX6), which led to a truncated protein, and a known homozygous nonsense mutation in exon 6 (c.651G>A, p.W217X) that was detected in three patients from 3 unrelated families. Moreover, two novel heterozygous variants in exon 5 and exon 8 of SERPINF1 gene respectively