中国斜视与小儿眼科杂志2025，Vol.33Issue(1)：24,后插1-后插3,16,5.DOI:10.3969/J.ISSN.1005-328X.2025.01.007
一个CRX基因新变异相关Leber先天性黑矇7型
Leber congenital amaurosis 7 associated with a novel variant in CRX gene
努日曼·斯热吉丁 1魏薇 1买尔哈巴·米吉提 1秦艳莉1
作者信息
- 1. 830001 新疆维吾尔自治区人民医院眼科医学诊疗中心
- 折叠
摘要
Abstract
Objective To report a case of Leber congenital amaurosis type 7(LCA7)caused by a novel heterozy-gous missense mutation(c.262A＞C)in the cone-rod homeobox(CRX)gene,and to describe its genotype and clinical phenotype.Methods One LCA family seeking medical treatment at the People's Hospital of Xinjiang Uygur Autonomous Region was included.Ophthalmic examinations were performed on family members.Peripheral blood and amniotic fluid sam-ples of family members were collected and DNA was extracted.Targeted sequencing of the target region was carried out for the proband,and whole exome sequencing was performed using the DNA extracted from the amniotic fluid.Bioinformatics analysis was conducted on the screened variant sites.Family co-segregation verification was carried out by Sanger sequencing in the family.Results A novel heterozygous missense mutation c.262A＞C(p.Lys88Gln)in the CRX gene was detected in the peripheral blood of the proband and the amniotic fluid sample of the second fetus.Sanger verification showed that there was no variation at this locus in the somatic cells of the proband's parents.The pathogenicity of this variant was evaluated with reference to the guidelines of the American College of Medical Genetics and Genomics(ACMG),and it was preliminarily judged to be a pathogenic variant.Conclusion A novel pathogenic variant in the CRX gene was detected in an LCA7 family,this variant is considered to be of the germline mosaicism type,which enriches the mutation spectrum and clinical phenotype spectrum of the CRX gene,and provides a reference for the eugenics of this family.关键词
Leber先天性黑矇/CRX/基因突变Key words
Leber congenital amaurosis/CRX/Gene variant引用本文复制引用
努日曼·斯热吉丁,魏薇,买尔哈巴·米吉提,秦艳莉..一个CRX基因新变异相关Leber先天性黑矇7型[J].中国斜视与小儿眼科杂志,2025,33(1):24,后插1-后插3,16,5.
