BÁO CÁO CA LÂM SÀNG: CHẨN ĐOÁN TRƯỜNG HỢP KHÔNG CÓ MỘT HOẶC CẢ HAI MẮT VÀ TẬT MẮT NHỎ BẤT THƯỜNG DO BIẾN THỂ DỊ HỢP TỬ GENE SOX2

Abstract

Disorders associated with SOX2 variants, also known as SOX2 gene variant-related eye disorders or SOX2-related malformations, are rare genetic conditions characterized by the absence of one or both eyes (anophthalmia) or abnormally small eyes (microphthalmia). The estimated incidence of anophthalmia at birth is approximately 3 per 100,000 live births, and microphthalmia is approximately 14 per 100,000 live births. However, combined evidence suggests that the incidence of these malformations may be as high as 30 per 100,000 individuals. This is an autosomal dominant genetic disorder, with the majority of cases being de novo. We report a case of a heterozygous SOX2 gene variant detected by next-generation sequencing and validated by direct Sanger sequencing. This case report contributes to expanding our understanding of the pathogenesis and clinical significance of the SOX2 gene variant, providing useful evidence for a broader understanding of disease etiology and offering a scientific basis for obstetricians, geneticists, and prenatal diagnosticians in the early detection, diagnosis, treatment, and counseling of genetic abnormalities in fetuses.