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BMC Pediatrics
Published in: BMC Pediatrics 1/2016

Open Access 01-12-2016 | Case report

GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review

Authors: Jayesh Sheth, Chaitanya Datar, Mehul Mistri, Riddhi Bhavsar, Frenny Sheth, Krati Shah

Published in: BMC Pediatrics | Issue 1/2016

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Abstract

Background

GM2 gangliosidosis-AB variants a rare autosomal recessive neurodegenerative disorder occurring due to deficiency of GM2 activator protein resulting from the mutation in GM2A gene. Only seven mutations in nine cases have been reported from different population except India.

Case presentation

Present case is a one year old male born to 3rd degree consanguineous Indian parents from Maharashtra. He was presented with global developmental delay, hypotonia and sensitive to hyperacusis. Horizontal nystagmus and cherry red spot was detected during ophthalmic examination. MRI of brain revealed putaminal hyperintensity and thalamic hypointensity with some unmyelinated white matter in T2/T1 weighted images. Initially he was suspected having Tay-Sachs disease and finally diagnosed as GM2 gangliosidosis, AB variant due to truncated protein caused by nonsense mutation c.472 G > T (p.E158X) in GM2Agene.

Conclusion

Children with phenotypic presentation as GM2 gangliosidosis (Tay-Sachs or Sandhoff disease) and normal enzyme activity of β-hexosaminidase-A and -B in leucocytes need to be investigated for GM2 activator protein deficiency.
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Metadata
Title
GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review
Authors
Jayesh Sheth
Chaitanya Datar
Mehul Mistri
Riddhi Bhavsar
Frenny Sheth
Krati Shah
Publication date
01-12-2016
Publisher
BioMed Central
Published in
BMC Pediatrics / Issue 1/2016
Electronic ISSN: 1471-2431
DOI
https://doi.org/10.1186/s12887-016-0626-6

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