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

Tomohiro Kohmoto; Takuya Naruto; Haruka Kobayashi; Miki Watanabe; Nana Okamoto; Kiyoshi Masuda; Issei Imoto; Nobuhiko Okamoto

doi:10.1038/hgv.2015.43

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

Hum Genome Var. 2015 Nov 12:2:15043. doi: 10.1038/hgv.2015.43. eCollection 2015.

Authors

Tomohiro Kohmoto¹, Takuya Naruto², Haruka Kobayashi¹, Miki Watanabe¹, Nana Okamoto³, Kiyoshi Masuda², Issei Imoto², Nobuhiko Okamoto⁴

Affiliations

¹ Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan; Student Lab, Faculty of Medicine, Tokushima University, Tokushima, Japan.
² Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School , Tokushima, Japan.
³ Department of Oral and Maxillofacial Surgery, Kobe University Graduate School of Medicine , Kobe, Japan.
⁴ Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health , Osaka, Japan.

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.