title: Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome.
abstract: Stickler syndrome is an inherited connective tissue disorder that affects the eyes, cartilage and articular tissues. The phenotypes of Stickler syndrome include congenital high myopia, retinal detachment, premature joint degeneration, hearing impairment and craniofacial anomalies, such as cleft palate and midline facial hypoplasia. The disease is genetically heterogeneous, and the majority of the cases are caused by mutations in the COL2A1 gene. We examined 40 Japanese patients with Stickler syndrome from 23 families to determine whether they had mutations in the COL2A1 gene. This analysis was conducted by examining each patient's genomic DNA by Sanger sequencing. Five nonsense, 4 splicing and 8 deletion mutations in the COL2A1 gene were identified, accounting for 21 of the 23 families. Different mutations of the COL2A1 gene were associated with similar phenotypes but with different degrees of expressivity.
authors.affiliation: Department of Ophthalmology, University of Occupational and Environmental Health , Kitakyushu, Japan.
authors.forename: Hiroyuki
authors.identifier: 0000-0002-3194-152X
authors.initials: H
authors.lastname: Kondo
authors.affiliation: Department of Ophthalmology, University of Occupational and Environmental Health , Kitakyushu, Japan.
authors.forename: Itsuka
authors.initials: I
authors.lastname: Matsushita
authors.affiliation: Department of Ophthalmology, University of Occupational and Environmental Health , Kitakyushu, Japan.
authors.forename: Tatsuo
authors.initials: T
authors.lastname: Nagata
authors.affiliation: Department of Ophthalmology, The Jikei University School of Medicine , Tokyo, Japan.
authors.forename: Takaaki
authors.initials: T
authors.lastname: Hayashi
authors.affiliation: Department of Ophthalmology, Shiga University of Medical Science , Hikone, Japan.
authors.forename: Masashi
authors.initials: M
authors.lastname: Kakinoki
authors.affiliation: Department of Ophthalmology, Fukuoka University , Fukuoka, Japan.
authors.forename: Eiichi
authors.initials: E
authors.lastname: Uchio
authors.affiliation: Department of Ophthalmology, Mie University Graduate School of Medicine , Tsu, Japan.
authors.forename: Mineo
authors.initials: M
authors.lastname: Kondo
authors.affiliation: Department of Ophthalmology, Shiga University of Medical Science , Hikone, Japan.
authors.forename: Masahito
authors.initials: M
authors.lastname: Ohji
authors.affiliation: Department of Ophthalmology, Kinki University, Sakai Hospital , Sakai, Japan.
authors.forename: Shunji
authors.initials: S
authors.lastname: Kusaka