未经证实:Crystallin蛋白突变与先天性白内障(CC)有关,并且已经鉴定了CRYGC基因中的几种致病突变。我们介绍了一个有或没有微角膜的CC的中国家庭成员中CRYGC的新突变的位置。
未经评估:观察性研究。
未经证实:一个被诊断为常染色体显性遗传(AD)CC伴或不伴小眼症的中国家庭。
未经评估:因为这是一项观察性研究,它没有注册为临床试验.先证者和她的2个孩子被诊断出患有ADCC和微角膜,并被招募参加研究。参与者接受了完整的眼科检查,和血液样品用于基因组提取。
UNASSIGNED:我们通过匹配先证者的表型和遗传模式,使用Exomiser分析检测到1个疾病相关变异。根据美国医学遗传学和基因组学学院(ACMG)指南确定该变体是致病性的。
UNASSIGNED:我们通过匹配先证者的表型和遗传模式,使用Exomiser分析检测到1个疾病相关变异。根据美国医学遗传学和基因组学学会指南确定该变体是致病性的。使用Sanger测序验证了下一代测序,我们证实先证者和她的孩子携带相同的突变。我们鉴定了杂合变体c.389_390insGCTG(p。C130fs),其中包括移码突变。p.C130fs中的残基在物种之间都是高度保守的。CRYGC基因中的这种致病移码突变目前不存在于ClinVar数据库中。
UNASSIGNED:我们的发现扩展了引起CC的CRYGC基因中已知突变的库,并为CC的病因和分子诊断提供了新的见解;然而,这种突变的分子机制值得进一步研究。
UNASSIGNED: Crystallin protein mutations are associated with congenital cataract (CC), and several disease-causing mutations in the CRYGC gene have been identified. We present the location of a new mutation in CRYGC in members of a Chinese family who presented with CCs with or without microcornea.
UNASSIGNED: Observational study.
UNASSIGNED: A Chinese family diagnosed with autosomal dominant (AD) CCs with or without microphthalmia.
UNASSIGNED: Because this was an observational study, it was not registered as a clinical trial. The proband and her 2 children were diagnosed with AD CCs and microcornea and were recruited for the study. Participants underwent complete ophthalmological examinations, and blood samples were used for genomic extraction.
UNASSIGNED: We detected 1 disease-associated variant using Exomiser analysis by matching the proband\'s phenotype and the inheritance pattern. The variant was determined to be pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines.
UNASSIGNED: We detected 1 disease-associated variant using Exomiser analysis by matching the proband\'s phenotype and the inheritance pattern. The variant was determined to be pathogenic according to the American College of Medical Genetics and Genomics guidelines. Next-generation sequencing was verified using Sanger sequencing, and we confirmed that the proband and her children carried the same mutation. We identified the heterozygous variant c.389_390insGCTG (p.C130fs), which includes a frameshift mutation. The residues in p.C130fs are all highly conserved across species. This disease-causing frameshift mutation in the CRYGC gene is not currently present in the ClinVar database.
UNASSIGNED: Our findings expand the repertoire of known mutations in the CRYGC gene that cause CCs and provide new insights into the etiology and molecular diagnosis of CCs; however, the molecular mechanism of this mutation warrants further investigation.