Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

ABSTRACT:

Background

Osteogenesis imperfecta (OI) is a heterogeneous hereditary connective tissue disorder clinically hallmarked by increased susceptibility to bone fractures.

Methods

We analyzed a cohort of 77 diagnosed OI patients from 49 unrelated Palestinian families. Next-generation sequencing technology was used to screen a panel of known OI genes.

Results

In 41 probands, we identified 28 different disease-causing variants of 9 different known OI genes. Eleven of the variants are novel. Ten of the 28 variants are located in COL1A1, five in COL1A2, three in BMP1, three in FKBP10, two in TMEM38B, two in P3H1, and one each in CRTAP, SERPINF1, and SERPINH1. The absence of disease-causing variants in the remaining eight probands suggests further genetic heterogeneity in OI. In

SUBMITTER: Essawi O 

PROVIDER: S-EPMC5823677 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature