高级检索
当前位置: 首页 > 详情页

Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene

文献详情

资源类型:
WOS体系:
Pubmed体系:

收录情况: ◇ SCIE

机构: [1]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, 100730 Beijing, China [2]NO.1 Dong Jiao Min Xiang, 100730 Beijing, China
出处:
ISSN:

关键词: Coralliform cataract CRYGD Mutation

摘要:
Congenital cataract is a leading cause of treatable childhood blindness and both clinically and genetically heterogeneous. Among the already characterized phenotypes, coralliform cataract is a rare special form of congenital cataracts. Although previous studies had shown that mutations in the γD-crystallin (CRYGD) can result in congenital coralliform cataracts, no conclusive genotype-phenotype correlation might be drawn. Here we aimed to identify the spectrum and frequency of CRYGD gene mutations in congenital coralliform cataracts of Chinese origin.The medical records of 392 Chinese families with congenital cataracts were reviewed between January 2011 and December 2021. The families, clinically documented to have congenital coralliform cataracts, were screened for mutations in candidate CRYGD gene. The genomic DNA of all subjects was extracted from peripheral blood leukocytes. PCR amplified and direct sequencing were performed to identify the disease-causing mutation.A total of 12 families with coralliform cataracts were recruited in this study in the past 10 years, accounting for 3.1% of the families with congenital cataracts. Of the 12 families, all affected individuals presented with bilateral non-progressive coralliform cataracts since birth, with the best-corrected Snellen visual acuities ranging from 20/200 to 20/25. A recurrent c.70 C > A (p. P24T) mutation in CRYGD was identified in 10 families (83.3%) with congenital cataract, which co-segregated with all affected individuals and was not observed in unaffected family members or ethnically matched normal controls.The coralliform cataract is characterized by being bilateral, non-progressive and present at birth. A recurrent p.P24T CRYGD mutation occurs independently in 83.3% of the Chinese families with congenital coralliform cataracts and most likely represents a mutational hot spot, which underscore the relations between coralliform cataract and p.P24T CRYGD.© 2023. The Author(s).

基金:
语种:
被引次数:
WOS:
PubmedID:
中科院(CAS)分区:
出版当年[2022]版:
大类 | 2 区 医学
小类 | 2 区 医学:研究与实验 2 区 遗传学
最新[2025]版:
大类 | 2 区 医学
小类 | 2 区 遗传学 2 区 医学:研究与实验
JCR分区:
出版当年[2021]版:
Q2 GENETICS & HEREDITY Q2 MEDICINE, RESEARCH & EXPERIMENTAL
最新[2023]版:
Q2 GENETICS & HEREDITY Q2 MEDICINE, RESEARCH & EXPERIMENTAL

影响因子: 最新[2023版] 最新五年平均 出版当年[2021版] 出版当年五年平均 出版前一年[2020版] 出版后一年[2022版]

第一作者:
第一作者机构: [1]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, 100730 Beijing, China
通讯作者:
通讯机构: [1]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, 100730 Beijing, China [2]NO.1 Dong Jiao Min Xiang, 100730 Beijing, China
推荐引用方式(GB/T 7714):
APA:
MLA:

资源点击量:23452 今日访问量:6 总访问量:1282 更新日期:2025-04-01 建议使用谷歌、火狐浏览器 常见问题

版权所有©2020 首都医科大学附属北京同仁医院 技术支持:重庆聚合科技有限公司 地址:北京市东城区东交民巷1号(100730)