title: A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome.
abstract: Stickler syndrome (STL) is an autosomal, dominantly inherited, clinically variable and genetically heterogeneous connective tissue disorder characterized by ocular, auditory, orofacial and skeletal abnormalities. We conducted targeted resequencing using a next-generation sequencer for molecular diagnosis of a 2-year-old girl who was clinically suspected of having STL with Pierre Robin sequence. We detected a novel heterozygous missense mutation, NM_001854.3:n.4838G>A [NM_001854.3 (COL11A1_v001):c.4520G>A], in COL11A1, resulting in a Gly to Asp substitution at position 1507 [NM_001854.3(COL11A1_i001)] within one of the collagen-like domains of the triple helical region. The same mutation was detected in her 4-year-old brother with cleft palate and high-frequency sensorineural hearing loss.
authors.affiliation: Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan; Student Lab, Faculty of Medicine, Tokushima University, Tokushima, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Kohmoto
authors.affiliation: Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University , Tokyo, Japan.
authors.forename: Atsumi
authors.initials: A
authors.lastname: Tsuji
authors.affiliation: Oral and Maxillofacial Surgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University , Tokyo, Japan.
authors.forename: Kei-Ichi
authors.initials: K
authors.lastname: Morita
authors.affiliation: Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School , Tokushima, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Naruto
authors.affiliation: Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School , Tokushima, Japan.
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Masuda
authors.affiliation: Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University , Tokyo, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Kashimada
authors.affiliation: Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University , Tokyo, Japan.
authors.forename: Keisuke
authors.initials: K
authors.lastname: Enomoto
authors.affiliation: Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University , Tokyo, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Morio
authors.affiliation: Oral and Maxillofacial Surgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University , Tokyo, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Harada
authors.affiliation: Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School , Tokushima, Japan.
authors.forename: Issei
authors.initials: I
authors.lastname: Imoto