Kondo Hiroyuki
   Department   School of Medicine  Ophthalmology, Clinical Medical Sciences
Article types journal article
Language English
Peer review Peer reviewed
Title Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome.
Journal Formal name:Human genome variation
Abbreviation:Hum Genome Var
ISSN code:/2054345X
Domestic / ForeginForegin
Volume, Issue, Page 3,16018頁
Author and coauthor Kondo Hiroyuki, Matsushita Itsuka, Nagata Tatsuo, Hayashi Takaaki, Kakinoki Masashi, Uchio Eiichi, Kondo Mineo, Ohji Masahito, Kusaka Shunji
Publication date 2016/07
Summary 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.
DOI 10.1038/hgv.2016.18
PMID 27408751