Kondo Hiroyuki, Matsushita Itsuka, Nagata Tatsuo, Hayashi Takaaki, Kakinoki Masashi, Uchio Eiichi, Kondo Mineo, Ohji Masahito, Kusaka Shunji
Department of Ophthalmology, University of Occupational and Environmental Health , Kitakyushu, Japan.
Department of Ophthalmology, The Jikei University School of Medicine , Tokyo, Japan.
Hum Genome Var. 2016 Jul 7;3:16018. doi: 10.1038/hgv.2016.18. eCollection 2016.
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.
斯-利二氏综合征是一种遗传性结缔组织疾病，会影响眼睛、软骨和关节组织。斯-利二氏综合征的表型包括先天性高度近视、视网膜脱离、关节过早退变、听力障碍以及颅面畸形，如腭裂和面部中线发育不全。该疾病在遗传上具有异质性，大多数病例是由COL2A1基因突变引起的。我们检查了来自23个家庭的40名日本斯-利二氏综合征患者，以确定他们是否存在COL2A1基因突变。通过桑格测序检查每位患者的基因组DNA来进行这项分析。在COL2A1基因中鉴定出5个无义突变、4个剪接突变和8个缺失突变，占23个家庭中的21个。COL2A1基因的不同突变与相似的表型相关，但具有不同程度的表达性。
