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

BMC Pediatrics

Case Report

Frenny Sheth¹  Jayesh Sheth¹  Mehul Mistri¹  Krati Shah¹  Riddhi Bhavsar¹  Chaitanya Datar² 

[1] Department of Biochemical and Molecular Genetics, FRIGE’s Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, 380015, Ahmedabad, Gujarat, India;Sahyadari Medical Genetics and Tissue engineering facility (SMGTEF), 411005, Pune, India;

关键词: GM2 gangliosidosis;    GM2A;    GM2 activator protein;    AB variant;   

DOI  :  10.1186/s12887-016-0626-6

 received in 2015-10-02, accepted in 2016-07-06,  发布年份 2016

来源: Springer

【 摘 要 】

BackgroundGM2 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 presentationPresent 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.ConclusionChildren 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.

【 授权许可】

CC BY   
© The Author(s). 2016