PDF(Pubmed)
Abstract：
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.
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.
摘要：
背景：先天性白内障是可治疗的儿童失明的主要原因，在临床和遗传上都是异质性的。在已经表征的表型中，珊瑚状白内障是一种罕见的特殊形式的先天性白内障。尽管先前的研究表明γD-晶状体蛋白（CRYGD）的突变可导致先天性珊瑚状白内障，无法得出明确的基因型-表型相关性.在这里，我们旨在确定中国先天性珊瑚状白内障中CRYGD基因突变的频谱和频率。
方法：回顾了2011年1月至2021年12月期间392个患有先天性白内障的中国家庭的病历。家庭,临床证明患有先天性珊瑚状白内障，筛选候选CRYGD基因的突变。从外周血白细胞中提取所有受试者的基因组DNA。进行PCR扩增和直接测序以鉴定致病突变。
结果：在过去10年中，这项研究共招募了12个患有珊瑚状白内障的家庭，占先天性白内障家庭的3.1%。在12个家庭中，所有受影响的个体自出生以来出现双侧非进行性珊瑚状白内障，最佳矫正的Snellen视力范围为20/200至20/25。反复出现的c.70C>A（p。在10个先天性白内障家庭(83.3%)中发现了CRYGD中的P24T)突变,与所有受影响的个体共同隔离，在未受影响的家庭成员或种族匹配的正常对照中未观察到。
结论：珊瑚状白内障的特点是双侧，非进步的，在出生时就存在。复发性p.P24TCRYGD突变独立发生在83.3%患有先天性珊瑚状白内障的中国家庭中，最有可能代表突变热点，强调了珊瑚状白内障与p.P24TCRYGD的关系。
方法：回顾了2011年1月至2021年12月期间392个患有先天性白内障的中国家庭的病历。家庭,临床证明患有先天性珊瑚状白内障，筛选候选CRYGD基因的突变。从外周血白细胞中提取所有受试者的基因组DNA。进行PCR扩增和直接测序以鉴定致病突变。
结果：在过去10年中，这项研究共招募了12个患有珊瑚状白内障的家庭，占先天性白内障家庭的3.1%。在12个家庭中，所有受影响的个体自出生以来出现双侧非进行性珊瑚状白内障，最佳矫正的Snellen视力范围为20/200至20/25。反复出现的c.70C>A（p。在10个先天性白内障家庭(83.3%)中发现了CRYGD中的P24T)突变,与所有受影响的个体共同隔离，在未受影响的家庭成员或种族匹配的正常对照中未观察到。
结论：珊瑚状白内障的特点是双侧，非进步的，在出生时就存在。复发性p.P24TCRYGD突变独立发生在83.3%患有先天性珊瑚状白内障的中国家庭中，最有可能代表突变热点，强调了珊瑚状白内障与p.P24TCRYGD的关系。
