Searchable abstracts of presentations at key conferences on calcified tissues

ba0004lb2 | (1) | ICCBH2015

Recessive osteogenesis imperfecta caused by missense mutations in SPARC

Mendoza Roberto , Fahiminiya Somayyeh , Majewski Jacek , Consortium Care4Rare Canada , Tetreault Martine , Nadaf Javad , Kannu Peter , Sochett Etienne , Howard Andrew , Stimec Jennifer , Dupuis Lucie , Roschger Paul , Klaushofer Klaus , Palomo Telma , Ouellet Jean , Al-Jallad Hadil , Mort John , Moffatt Pierre , Boudko Sergei , Bachinger Hans-Peter , Rauch Frank

Objectives: We sought to identify the disease-causing mutations in two unrelated girls with a clinical diagnosis of osteogenesis imperfecta type IV.Methods: Whole-exome sequencing and cellular studies in skin fibroblasts were conducted.Results: We identified two homozygous variants in SPARC (NM_003118.3; c.497G>A (p.Arg166His) in individual 1; c.787G>A (p.Glu263Lys) in individual 2). Secreted protein, acidic, cyste...