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Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy
PURPOSE: Bietti crystalline dystrophy (BCD) is an autosomal recessive retinal degeneration disorder caused by mutations in CYP4V2. The aim of this study is to describe the genetic and clinical findings in 128 unrelated Chinese patients diagnosed with BCD. METHODS: Ophthalmological evaluations were p...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204257/ https://www.ncbi.nlm.nih.gov/pubmed/30429639 |
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author | Zhang, Xiaohui Xu, Ke Dong, Bing Peng, Xiaoyan Li, Qian Jiang, Feng Xie, Yue Tian, Lu Li, Yang |
author_facet | Zhang, Xiaohui Xu, Ke Dong, Bing Peng, Xiaoyan Li, Qian Jiang, Feng Xie, Yue Tian, Lu Li, Yang |
author_sort | Zhang, Xiaohui |
collection | PubMed |
description | PURPOSE: Bietti crystalline dystrophy (BCD) is an autosomal recessive retinal degeneration disorder caused by mutations in CYP4V2. The aim of this study is to describe the genetic and clinical findings in 128 unrelated Chinese patients diagnosed with BCD. METHODS: Ophthalmological evaluations were performed in all patients. All coding regions of CYP4V2 were amplified and sequenced directly. Real-time quantitative PCR was performed to detect copy number variations. Haplotype analysis was performed in 70 patients with c.802–8_810del17insGC and in 93 normal controls. RESULTS: A total of 28 mutations in CYP4V2, including eight novel mutations, were identified in 125 patients. The most common mutation was c.802–8_810del17insGC, with an allele frequency of 62.6%, followed by p.H331P (8.7%) and c.1091–2A>G (7.5%). A novel large deletion encompassing exon 8 of CYP4V2 was detected. Haplotype analysis revealed four common haplotypes in patients with c.802–8_810del17insGC. A 17.6 kb haplotype CT(delCT)TA(Indel)A was the most common and was observed in 34.5% of the c.802–8_810del17insGC mutant alleles. The patients with mutations in CYP4V2 showed wide intra- and interfamilial variability in clinical severity. CONCLUSIONS: The findings expand the mutational spectrum of CYP4V2 and further confirm the c.802–8_810del17insGC mutation was due to a founder effect in a large cohort of Chinese patients. |
format | Online Article Text |
id | pubmed-6204257 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Molecular Vision |
record_format | MEDLINE/PubMed |
spelling | pubmed-62042572018-11-14 Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy Zhang, Xiaohui Xu, Ke Dong, Bing Peng, Xiaoyan Li, Qian Jiang, Feng Xie, Yue Tian, Lu Li, Yang Mol Vis Research Article PURPOSE: Bietti crystalline dystrophy (BCD) is an autosomal recessive retinal degeneration disorder caused by mutations in CYP4V2. The aim of this study is to describe the genetic and clinical findings in 128 unrelated Chinese patients diagnosed with BCD. METHODS: Ophthalmological evaluations were performed in all patients. All coding regions of CYP4V2 were amplified and sequenced directly. Real-time quantitative PCR was performed to detect copy number variations. Haplotype analysis was performed in 70 patients with c.802–8_810del17insGC and in 93 normal controls. RESULTS: A total of 28 mutations in CYP4V2, including eight novel mutations, were identified in 125 patients. The most common mutation was c.802–8_810del17insGC, with an allele frequency of 62.6%, followed by p.H331P (8.7%) and c.1091–2A>G (7.5%). A novel large deletion encompassing exon 8 of CYP4V2 was detected. Haplotype analysis revealed four common haplotypes in patients with c.802–8_810del17insGC. A 17.6 kb haplotype CT(delCT)TA(Indel)A was the most common and was observed in 34.5% of the c.802–8_810del17insGC mutant alleles. The patients with mutations in CYP4V2 showed wide intra- and interfamilial variability in clinical severity. CONCLUSIONS: The findings expand the mutational spectrum of CYP4V2 and further confirm the c.802–8_810del17insGC mutation was due to a founder effect in a large cohort of Chinese patients. Molecular Vision 2018-10-26 /pmc/articles/PMC6204257/ /pubmed/30429639 Text en Copyright © 2018 Molecular Vision. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited, used for non-commercial purposes, and is not altered or transformed. |
spellingShingle | Research Article Zhang, Xiaohui Xu, Ke Dong, Bing Peng, Xiaoyan Li, Qian Jiang, Feng Xie, Yue Tian, Lu Li, Yang Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy |
title | Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy |
title_full | Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy |
title_fullStr | Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy |
title_full_unstemmed | Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy |
title_short | Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy |
title_sort | comprehensive screening of cyp4v2 in a cohort of chinese patients with bietti crystalline dystrophy |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204257/ https://www.ncbi.nlm.nih.gov/pubmed/30429639 |
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