Chae H, Kim M, Kim Y, Kim J, Kwon A, Choi H, Park J, Jang W, Lee Y S, Park S H, Kim M S
Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Clin Genet. 2016 Jun;89(6):678-89. doi: 10.1111/cge.12726. Epub 2016 Feb 10.
Corneal dystrophy typically refers to a group of rare hereditary disorders with a heterogeneous genetic background. A comprehensive molecular genetic analysis was performed to characterize the genetic spectrum of corneal dystrophies in Korean patients. Patients with various corneal dystrophies underwent thorough ophthalmic examination, histopathologic examination, and Sanger sequencing. A total of 120 probands were included, with a mean age of 50 years (SD = 18 years) and 70% were female. A total of 26 mutations in five genes (14 clearly pathogenic and 12 likely pathogenic) were identified in 49 probands (41%). Epithelial-stromal TGFBI dystrophies, macular corneal dystrophy and Schnyder corneal dystrophy (SCD) showed 100% mutation detection rates, while endothelial corneal dystrophies showed lower detection rates of 3%. Twenty six non-duplicate mutations including eight novel mutations were identified and mutations associated with SCD were identified genetically for the first time in this population. This study provides a comprehensive characterization of the genetic aberrations in Korean patients and also highlights the diagnostic value of molecular genetic analysis in corneal dystrophies.
角膜营养不良通常指一组具有异质性遗传背景的罕见遗传性疾病。进行了全面的分子遗传学分析，以明确韩国患者角膜营养不良的遗传谱。患有各种角膜营养不良的患者接受了全面的眼科检查、组织病理学检查和桑格测序。共纳入120名先证者，平均年龄50岁（标准差=18岁），70%为女性。在49名先证者（41%）中，共鉴定出五个基因中的26个突变（14个明确致病，12个可能致病）。上皮-基质TGFBI营养不良、斑状角膜营养不良和施奈德角膜营养不良（SCD）的突变检出率为100%，而内皮角膜营养不良的检出率较低，为3%。鉴定出26个非重复突变，包括8个新突变，并且在该人群中首次从基因上鉴定出与SCD相关的突变。本研究全面描述了韩国患者的基因畸变情况，也突出了分子遗传学分析在角膜营养不良中的诊断价值。
