Iranian Journal of Neonatology

Iranian Journal of Neonatology

A Rare Case of Antenatally Diagnosed Tay-Sachs Disease

Document Type : Case Report

Authors
Sonal Gupta 1
Devi Lal 2
Juhi Bhalotia 3
O.P. Gupta 1
Himani Pandey 4
1 Shri Sai Sonography and Fetal Medicine Centre, Gondia 441601, Maharashtra, India
2 Department of Zoology, Ramjas College, University of Delhi, Delhi 110007, India
3 United Hospital, Gondia 441601, Maharashtra, India
4 Redcliffe Labs, Electronic City, Noida 201301, India
10.22038/ijn.2026.82250.2584
Abstract
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 19-week pregnant 30-year-old female with a bad obstetric history. Her two previous female children expired at 11 months and 5 years of age, respectively, with suspected metabolic or neurodegenerative disorders. The third female child presented at 4 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_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs), 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.
Keywords
&beta
-hexosaminidase A, Frameshift mutation, Sanger sequencing, Tay-Sachs disease, Whole-exome sequencing
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Iranian Journal of Neonatology
Volume 17, Issue 3
Summer 2026
Pages 55-58