A rare case of antenatally diagnosed Tay-Sachs disease.

Articles in Press

Document Type : Case Report

Authors

1 Shri Sai Sonography and Fetal Medicine Centre, Gondia 441601, Maharashtra, India

2 Department of Zoology, Ramjas College, University of Delhi, Delhi 110007

3 United Hospital, Gondia 441601, Maharashtra, India.

4 Shri Sai Sonography and Fetal Medicine Centre, Gondia 441601, Maharashtra, India.

5 Redcliffe Labs, Noida, India

10.22038/ijn.2026.82250.2584

Abstract

Introduction

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 Presentation

The case presented is of a 19-week pregnant 30-years-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. Looking at the past obstetric history and history of consanguinity, whole-exome sequencing (WES) of both parents and Sanger sequencing of the fetus was carried out.

Conclusions

Whole-exome sequencing of 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 in Tay-Sachs disease.

Keywords

Iranian Journal of Neonatology

Articles in Press, Accepted Manuscript
Available Online from 09 June 2026

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