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Man Soo Kim, Eun Chul Kim, Woong-Joo Whang; Mutational Spectrum of Korean Patients with Corneal Dystrophy. Invest. Ophthalmol. Vis. Sci. 2016;57(12):4825. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
This study aimed to analyze the spectrum of genetic aberrations in Korean patients referred and diagnosed with various types of corneal dystrophies in a single tertiary referral center, and to characterize the genotype-phenotype correlations in this population.
Patients with corneal dystrophies who presented at Seoul St Mary’s Hospital, Seoul, Korea, from September 2009 to July 2014 and for whom gene mutation analysis was requested were included in this study. Genomic DNA was isolated from the peripheral blood leukocytes, using the QIAmp DNA Mini Kit (Qiagen, Hamburg, Germany). Polymerase chain reaction (PCR) was carried out using previously published primer sets for TGFBI, CHST6, UBIAD1, COL8A2, ZEB1, and SLC4A11. All the coding exons and the flanking intron/exon boundaries of the above genes were amplified. The PCR amplicons were bi-directionally sequenced using the Big Dye terminator v3.1 cycle sequencing kit (Applied Biosystems, Foster City, CA, USA) on an ABI PRISM 3100 Genetic Analyzer (Applied Biosystems). The chromatograms were analyzed with the Sequencher software version 5.0 (Gene Codes, Ann Arbor, MI, USA). Sequence variants were confirmed by sequencing two or more independent PCR reactions.
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 5 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 showed 100% mutation detection rates, while endothelial corneal dystrophies showed lower detection rates of 8.9%. Twenty six non-duplicate mutations including 8 novel mutations were identified and mutations associated with Schnyder corneal dystrophy 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.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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