Related Experiment Video

Updated: Jan 31, 2026

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations
06:39

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

Published on: August 24, 2018

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Tay-Sachs disease: a novel mutation from India

Daisy Khera1, Joseph John2, Kuldeep Singh1

  • 1Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Jodhpur, Rajasthan, India.

BMJ Case Reports
|December 21, 2018
PubMed

Insights

This study reports a novel genetic mutation in the HEXA gene causing a rare lysosomal storage disorder. Early diagnosis through enzyme activity and genetic testing is crucial for managing this inherited neurodegenerative condition.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Lysosomal storage disorders (LSDs), or lipidoses, are inherited conditions resulting from deficient lysosomal hydrolase enzymes.
  • Over 134 mutations causing LSDs have been identified, with ongoing discoveries of new mutations.

Observation:

  • A 28-month-old child exhibited neurodevelopmental regression, seizures, and a characteristic cherry-red spot in both eyes.
  • Reduced hexosaminidase A enzyme activity was detected in the patient.

Findings:

  • Genetic analysis revealed a homozygous novel variation in the HEXA (hexosaminidase A) gene.
  • This mutation is associated with the observed clinical presentation and biochemical deficiencies.

Implications:

  • Highlights the importance of early diagnosis for LSDs through enzyme assays and genetic testing.
  • Contributes to the growing understanding of HEXA gene mutations and their role in neurodegenerative disorders.
  • Emphasizes the need for continued research into novel mutations and therapeutic strategies for lipidoses.

Keywords:
geneticsmetabolic disorderspaediatrics

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