Novel mutations in CYP4V2 in Bietti corneoretinal crystalline dystrophy: Next-generation sequencing technology and genotype-phenotype correlations

To identify any novel mutations in in 85 Chinese families with Bietti corneoretinal crystalline dystrophy (BCD) by using next-generation sequencing, and to summarize the mutation spectrum in this population, along with any genotype-phenotype correlations. A total of 90 patients with BCD from 85 unre...

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Bibliographic Details
Published in:Molecular vision 2019, Vol.25, p.654-662
Main Authors: Meng, Xiao Hong, He, Yan, Zhao, Tong Tao, Li, Shi Ying, Liu, Yong, Yin, Zheng Qin
Format: Article
Language:English
Subjects:
Adult
Corneal Dystrophies, Hereditary - genetics
Corneal Dystrophies, Hereditary - physiopathology
Cytochrome P450 Family 4 - genetics
DNA Mutational Analysis
Electroretinography
Female
Genetic Association Studies
High-Throughput Nucleotide Sequencing
Humans
Male
Middle Aged
Mutation - genetics
Retinal Diseases - genetics
Retinal Diseases - physiopathology
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Summary:To identify any novel mutations in in 85 Chinese families with Bietti corneoretinal crystalline dystrophy (BCD) by using next-generation sequencing, and to summarize the mutation spectrum in this population, along with any genotype-phenotype correlations. A total of 90 patients with BCD from 85 unrelated Chinese families were recruited. All probands were analyzed by using gene chip-based next-generation sequencing, to capture and sequence all the exons of 57 known hereditary retinal degeneration-associated genes. The candidate variants were validated with PCR and Sanger sequencing. Twenty-eight mutations were detected in all patients, including thirteen novel mutations (five missense, six deletions, one splicing and one frame-shift mutations) and 15 previously reported mutations. Mutations in 64 patients were inherited from their parents, while three patients had de novo mutations. c.802-8_810del17insGC was the most common mutation, accounting for 78% of the mutations. Although 16 patients were homozygous at this site, the clinical features of all 16 patients were highly heterogeneous. These results expand the spectrum of mutations in , and suggest that mutations in may be common in the Chinese population. The phenotype of patients with the homozygous mutation (hom.c.802-8_810del17insGC) is highly heterogeneous.
ISSN:1090-0535