title: Mutational spectrum of Korean patients with corneal dystrophy.
abstract: 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.
authors.affiliation: 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.
authors.forename: H
authors.initials: H
authors.lastname: Chae
authors.affiliation: 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.
authors.forename: M
authors.initials: M
authors.lastname: Kim
authors.affiliation: 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.
authors.forename: Y
authors.initials: Y
authors.lastname: Kim
authors.affiliation: Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
authors.forename: J
authors.initials: J
authors.lastname: Kim
authors.affiliation: Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
authors.forename: A
authors.initials: A
authors.lastname: Kwon
authors.affiliation: Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
authors.forename: H
authors.initials: H
authors.lastname: Choi
authors.affiliation: 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.
authors.forename: J
authors.initials: J
authors.lastname: Park
authors.affiliation: Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
authors.forename: W
authors.initials: W
authors.lastname: Jang
authors.affiliation: Department of Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
authors.forename: Y S
authors.initials: YS
authors.lastname: Lee
authors.affiliation: Department of Ophthalmology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
authors.forename: S H
authors.initials: SH
authors.lastname: Park
authors.affiliation: Department of Ophthalmology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
authors.forename: M S
authors.initials: MS
authors.lastname: Kim
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D024102:Collagen Type VIII / Q000235:genetics; D003317:Corneal Dystrophies, Hereditary / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D004122:Dimethylallyltranstransferase / Q000235:genetics; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D056910:Republic of Korea; D015238:Sulfotransferases / Q000235:genetics; D016212:Transforming Growth Factor beta / Q000235:genetics; D000071799:Zinc Finger E-box-Binding Homeobox 1 / Q000235:genetics; D000097811:Carbohydrate Sulfotransferases
chemical_list: D024102:Collagen Type VIII; D004122:Dimethylallyltranstransferase; D015238:Sulfotransferases; D016212:Transforming Growth Factor beta; D000071799:Zinc Finger E-box-Binding Homeobox 1; D000097811:Carbohydrate Sulfotransferases; C443712:COL8A2 protein, human; C486307:ZEB1 protein, human; C425464:UBIAD1 protein, human
keywords: Fuchs endothelial corneal dystrophy; Korea; Schnyder corneal dystrophy; Thiel-Behnke corneal dystrophy; granular corneal dystrophy; lattice corneal dystrophy; macular corneal dystrophy; molecular genetic analysis; posterior polymorphous corneal dystrophy