Ontology highlight
ABSTRACT:
SUBMITTER: Mendoza-Londono R
PROVIDER: S-EPMC4457955 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Mendoza-Londono Roberto R Fahiminiya Somayyeh S Majewski Jacek J Tétreault Martine M Nadaf Javad J Kannu Peter P Sochett Etienne E Howard Andrew A Stimec Jennifer J Dupuis Lucie L Roschger Paul P Klaushofer Klaus K Palomo Telma T Ouellet Jean J Al-Jallad Hadil H Mort John S JS Moffatt Pierre P Boudko Sergei S Bächinger Hans-Peter HP Rauch Frank F
American journal of human genetics 20150528 6
Secreted protein, acidic, cysteine-rich (SPARC) is a glycoprotein that binds to collagen type I and other proteins in the extracellular matrix. Using whole-exome sequencing to identify the molecular defect in two unrelated girls with severe bone fragility and a clinical diagnosis of osteogenesis imperfecta type IV, we identified two homozygous variants in SPARC (GenBank: NM_003118.3; c.497G>A [p.Arg166His] in individual 1; c.787G>A [p.Glu263Lys] in individual 2). Published modeling and site-dire ...[more]