A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome.

ABSTRACT: Stickler syndrome is a clinically and genetically heterogeneous collagenopathy characterized by ocular, auditory, skeletal and orofacial abnormalities, commonly occurring as an autosomal dominant trait. We conducted target resequencing to analyze candidate genes associated with known clinical phenotypes from a 4-year-old girl with Stickler syndrome. We detected a novel heterozygous intronic mutation (NM_001854.3:c.3168+5G>A) in COL11A1 that may impair splicing, which was suggested by in silico prediction and a minigene assay.

SUBMITTER: Kohmoto T 

PROVIDER: S-EPMC4785552 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature