Analysis ofNR2F1 gene variant in a child with optic atrophy and global developmental delay
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目的 分析1例表现为视神经萎缩和全面发育障碍患儿的遗传学病因。 方法 选取2022年1月因"视物障碍、发育迟缓"于广州市妇女儿童医疗中心就诊的1例患儿为研究对象。收集患儿相关临床资料，应用全外显子组测序(WES)对患儿进行检测，对检出变异进行Sanger测序验证与生物信息学分析。 结果 患儿为9月龄女性，主要表现为有视觉障碍，运动与认知全面发育落后。基因检测示患儿携带NR2F1基因c.425G>C(p.Arg142Pro)新发变异，与Bosch-Boonstra-Schaaf综合征密切相关。参照美国医学遗传学与基因组学学会(ACMG)相关指南，判定其为致病性变异(PS2＋PM1＋PM2_Supporting＋PM5＋PP3＋PP4)。 结论 NR2F1基因c.425G>C(p.Arg142Pro)变异可能是本研究患儿的遗传学病因，进一步丰富了NR2F1基因的变异与表型谱。 Objective To explore the genetic basis for a child with optic atrophy and global developmental delay. Methods 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. Results 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 theNR2F1 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). Conclusion The c. 425G>C (p.Arg142Pro) variant of theNR2F1 gene probably underlay the pathogenesis in this child. Above finding has enriched the genotypic and phenotypic spectrum of the NR2F1 gene.
Objective To explore the genetic basis for a child with optic atrophy and global developmental delay. Methods 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. Results 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 theNR2F1 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). Conclusion The c. 425G>C (p.Arg142Pro) variant of theNR2F1 gene probably underlay the pathogenesis in this child. Above finding has enriched the genotypic and phenotypic spectrum of the NR2F1 gene.
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