A Rare Case of Antenatally Diagnosed Tay-Sachs Disease

Background: Tay-Sachs disease (TSD) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the HEXA gene that encodes the alpha subunit of the lysosomal enzyme β-hexosaminidase A (Hex A). Case Report: The case presented is of a ۱۹-week pregnant ۳۰-year-old female with a bad obstetric history. Her two previous female children expired at ۱۱ months and ۵ years of age, respectively, with suspected metabolic or neurodegenerative disorders. The third female child presented at ۴ years of age with a history of seizures and global developmental delay and had facial dysmorphism and macrocephaly. Considering the past obstetric history and history of consanguinity, whole-exome sequencing (WES) of both parents and Sanger sequencing of the fetus were carried out. Conclusion: Whole-exome sequencing of the parents and prenatal genetic testing revealed one pathogenic mutation, NM_۰۰۰۵۲۰.۶(HEXA):c.۱۲۷۴_۱۲۷۷dup (p.Tyr۴۲۷fs), in the HEXA gene in this family. The parents were heterozygous, while the fetus was homozygous for this mutation, which manifests as Tay-Sachs disease.

کلیدواژه ها:

&beta ، -hexosaminidase A ، Frameshift mutation ، Sanger sequencing ، Tay-Sachs disease ، Whole-exome sequencing