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CASE REPORT
Tay-Sachs disease: a novel mutation from India
  1. Daisy Khera1,
  2. Joseph John2,
  3. Kuldeep Singh1 and
  4. Mohammed Faruq3
  1. 1 Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Jodhpur, Rajasthan, India
  2. 2 Department of Pediatrics, All India Institute of Medical Sciences Bhubaneswar, Bhubaneswar, Odisha, India
  3. 3 Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India
  1. Correspondence to Dr Daisy Khera, pushpinderdaisy{at}gmail.com

Abstract

Lysosomal storage disorders or lipidoses are a wide spectrum of inherited diseases caused by deficiency of a specific lysosomal hydrolase. About 134 mutations have been described so far and this number is gradually increasing with newer mutations being reported. We report a 28-month-old child who presented to us with neurodevelopment regression, seizures and cherry red spot in both eyes. His hexosaminidase A enzyme activity was reduced and genetic testing revealed a homozygous novel variation in HEXA (hexosaminidase A) gene in the DNA sample of the patient.

  • metabolic disorders
  • genetics
  • paediatrics
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Footnotes

  • Patient consent for publication Parental/guardian consent obtained.

  • Contributors DK made substantial contributions to the conception of the work, drafting the work, revising it critically for important intellectual content and final approval of the version to be published and agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. JJ made substantial contributions to the conception of the work, drafting the work, revising it critically for important intellectual content and final approval of the version to be published and agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. KS made substantial contributions to the conception of the work, drafting the work, revising it critically for important intellectual content and final approval of the version to be published and agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. MF made substantial contributions to the drafting of the work, revising it critically for important intellectual content and final approval of the version to be published and agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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