Molecular vision · 2016
Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.
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Li Dan, Wang Siying, Ye Hongfei, Tang Yating, Qiu Xiaodi, Fan Qi, Rong Xianfang, Liu Xin, Chen Yuhong, Yang Jin, Lu Yi
Аннотация
PURPOSE: This study aimed to investigate the genetic effects underlying non-familial sporadic congenital cataract (SCC).
METHODS: We collected DNA samples from 74 patients with SCC and 20 patients with traumatic cataract (TC) in an age-matched group and performed genomic sequencing of 61 lens-related genes with target region capture and next-generation sequencing (NGS). The suspected SCC variants were validated with MassARRAY and Sanger sequencing. DNA samples from 103 healthy subjects were used as additional controls in the confirmation examination.
RESULTS: By filtering against common variants in public databases and those associated with TC cases, we identified 23 SCC-specific variants in 17 genes from 19 patients, which were predicted to be functional. These mutations were further confirmed by examination of the 103 healthy controls. Among the mutated genes, CRYBB3 had the highest mutation frequency with mutations detected four times in four patients, followed by EPHA2, NHS, and WDR36, the mutation of which were detected two times in two patients. We observed that the four patients with CRYBB3 mutations had three different cataract phenotypes.
CONCLUSIONS: From this study, we concluded the clinical and genetic heterogeneity of SCC. This is the first study to report broad spectrum genotyping for patients with SCC.
METHODS: We collected DNA samples from 74 patients with SCC and 20 patients with traumatic cataract (TC) in an age-matched group and performed genomic sequencing of 61 lens-related genes with target region capture and next-generation sequencing (NGS). The suspected SCC variants were validated with MassARRAY and Sanger sequencing. DNA samples from 103 healthy subjects were used as additional controls in the confirmation examination.
RESULTS: By filtering against common variants in public databases and those associated with TC cases, we identified 23 SCC-specific variants in 17 genes from 19 patients, which were predicted to be functional. These mutations were further confirmed by examination of the 103 healthy controls. Among the mutated genes, CRYBB3 had the highest mutation frequency with mutations detected four times in four patients, followed by EPHA2, NHS, and WDR36, the mutation of which were detected two times in two patients. We observed that the four patients with CRYBB3 mutations had three different cataract phenotypes.
CONCLUSIONS: From this study, we concluded the clinical and genetic heterogeneity of SCC. This is the first study to report broad spectrum genotyping for patients with SCC.
Предметные рубрики MeSH
Asian PeopleCataractChildChild, PreschoolChinaCrystallinsDNA Mutational AnalysisEye ProteinsFemaleGenetic HeterogeneityGenotypeHigh-Throughput Nucleotide SequencingHumansInfantInfant, NewbornMaleMembrane ProteinsMutation, MissenseNuclear ProteinsPolymorphism, Single NucleotideReceptor, EphA2beta-Crystallin B Chain