Tian Yang, Cai Jiahao, Li Xufang, Chen Lianfeng, Kang Ting, Chen Wenxiong
Department of Neurology, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong 510623, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Oct 10;40(10):1301-1305. doi: 10.3760/cma.j.cn511374-20221023-00710.
To explore the genetic basis for a child with optic atrophy and global developmental delay.
A child who had presented at the Guangzhou Women and Children's Medical Center in January 2022 was selected as the study subject. Clinical data were collected. Whole exome sequencing (WES) was carried out for the child. Candidate variant was validated by Sanger sequencing and bioinformatic analysis.
The child, a nine-month-old female, had manifested dysopia and global developmental delay. Genetic testing revealed that she has harbored a de novo c.425G>C (p.Arg142Pro) variant of the NR2F1 gene, which has been associated with Bosch-Boonstra-Schaaf syndrome. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PS2+PM1+PM2_Supporting+PM5+PP3+PP4).
The c.425G>C (p.Arg142Pro) variant of the NR2F1 gene probably underlay the pathogenesis in this child. Above finding has enriched the genotypic and phenotypic spectrum of the NR2F1 gene.
探讨一名患有视神经萎缩和全面发育迟缓儿童的遗传基础。
选取一名于2022年1月就诊于广州妇女儿童医疗中心的儿童作为研究对象。收集临床资料。对该儿童进行全外显子组测序（WES）。通过Sanger测序和生物信息学分析对候选变异进行验证。
该儿童为9个月大的女性，表现为视力障碍和全面发育迟缓。基因检测显示她携带NR2F1基因的一个新发c.425G>C（p.Arg142Pro）变异，该变异与博施-布恩斯特拉-沙夫综合征相关。根据美国医学遗传学与基因组学学会（ACMG）的指南，该变异被分类为致病性变异（PS2+PM1+PM2_支持+PM5+PP3+PP4）。
NR2F1基因的c.425G>C（p.Arg142Pro）变异可能是该儿童发病机制的基础。上述发现丰富了NR2F1基因相关的基因型和表型谱。
