Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy.
To investigate the clinical features and cytochrome P450 family 4 subfamily V polypeptide 2 (CYP4V2) gene mutations in 14 Chinese families with Bietti crystalline dystrophy (BCD).Seventeen patients from 14 unrelated Chinese families with BCD were recruited for complete clinical ophthalmic examinatio...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2014-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC3989252?pdf=render |
| _version_ | 1811206340119363584 |
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| author | Houfa Yin Chongfei Jin Xiaoyun Fang Qi Miao Yingying Zhao Zhiqing Chen Zhaoan Su Panpan Ye Yao Wang Jinfu Yin |
| author_facet | Houfa Yin Chongfei Jin Xiaoyun Fang Qi Miao Yingying Zhao Zhiqing Chen Zhaoan Su Panpan Ye Yao Wang Jinfu Yin |
| author_sort | Houfa Yin |
| collection | DOAJ |
| description | To investigate the clinical features and cytochrome P450 family 4 subfamily V polypeptide 2 (CYP4V2) gene mutations in 14 Chinese families with Bietti crystalline dystrophy (BCD).Seventeen patients from 14 unrelated Chinese families with BCD were recruited for complete clinical ophthalmic examination and genetic study. The 11 exons of CYP4V2 were amplified from genomic DNA of all patients and their family members by polymerase chain reaction (PCR) and then sequenced. Exons of TIMP3 were also sequenced in BCD patient associated with choroidal neovascularization (CNV). One hundred and seventy unrelated healthy Chinese subjects were screened for mutations in CYP4V2.All 17 patients with BCD had mutations in CYP4V2; one of these mutations was novel (c.219T>A, p.F73L) and four other mutations had been reported. The p.F73L mutation was a commonly detected mutation in our study (seven out of 34 alleles), either in the homozygous state or in the heterozygous state. Among the patients, considerable phenotypic variability was detected, both within and between families. Screening of TIMP3 did not find any mutation in the BCD patient associated with CNV.The novel CYP4V2 c.219T>A (p.F73L) mutation may be another recurrent mutation in Chinese patients with BCD. Our study expands the mutation spectrum of CYP4V2 and characterizes novel genotype-phenotype associations in Chinese patients with BCD. |
| first_indexed | 2024-04-12T03:45:44Z |
| format | Article |
| id | doaj.art-efc6bb09a14243bf9e2be7a7f563c625 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-04-12T03:45:44Z |
| publishDate | 2014-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-efc6bb09a14243bf9e2be7a7f563c6252022-12-22T03:49:08ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0194e9496010.1371/journal.pone.0094960Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy.Houfa YinChongfei JinXiaoyun FangQi MiaoYingying ZhaoZhiqing ChenZhaoan SuPanpan YeYao WangJinfu YinTo investigate the clinical features and cytochrome P450 family 4 subfamily V polypeptide 2 (CYP4V2) gene mutations in 14 Chinese families with Bietti crystalline dystrophy (BCD).Seventeen patients from 14 unrelated Chinese families with BCD were recruited for complete clinical ophthalmic examination and genetic study. The 11 exons of CYP4V2 were amplified from genomic DNA of all patients and their family members by polymerase chain reaction (PCR) and then sequenced. Exons of TIMP3 were also sequenced in BCD patient associated with choroidal neovascularization (CNV). One hundred and seventy unrelated healthy Chinese subjects were screened for mutations in CYP4V2.All 17 patients with BCD had mutations in CYP4V2; one of these mutations was novel (c.219T>A, p.F73L) and four other mutations had been reported. The p.F73L mutation was a commonly detected mutation in our study (seven out of 34 alleles), either in the homozygous state or in the heterozygous state. Among the patients, considerable phenotypic variability was detected, both within and between families. Screening of TIMP3 did not find any mutation in the BCD patient associated with CNV.The novel CYP4V2 c.219T>A (p.F73L) mutation may be another recurrent mutation in Chinese patients with BCD. Our study expands the mutation spectrum of CYP4V2 and characterizes novel genotype-phenotype associations in Chinese patients with BCD.http://europepmc.org/articles/PMC3989252?pdf=render |
| spellingShingle | Houfa Yin Chongfei Jin Xiaoyun Fang Qi Miao Yingying Zhao Zhiqing Chen Zhaoan Su Panpan Ye Yao Wang Jinfu Yin Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy. PLoS ONE |
| title | Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy. |
| title_full | Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy. |
| title_fullStr | Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy. |
| title_full_unstemmed | Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy. |
| title_short | Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy. |
| title_sort | molecular analysis and phenotypic study in 14 chinese families with bietti crystalline dystrophy |
| url | http://europepmc.org/articles/PMC3989252?pdf=render |
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