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    • Keywords


      GM1 gangliosidosis; beta-galactosidase; novel mutation; GLB1 gene.

    • Abstract


      Monosialotetrahexosylganglioside (GM1) is a rare lysosomal storage disorder caused by the deficiency of beta-galactosidase (β-Gal) encoded by galactose beta 1 (GLB1). It is clinically characterized by developmental delay attributed to multifold accumulation of GM1 gangliosides in nerve cells. In this study, we present a case of infantile GM1 gangliosidosis in a consanguineous Pakistani family. The child was presented with developmental delay, hepatosplenomegaly and recurrent chest infections at 7.5 months of age. Radiological and biochemical investigations including magnetic resonance imaging (MRI), bonemarrow biopsy and urine oligosaccharide analyses suggested lysosomal storage disorder. Significantly low levels of β-Gal enzyme confirmed the diagnosis of GM1 gangliosidosis. DNA sequencing of GLB1 identified a homozygous 2-bp deletion c.881-882delAT (p.Tyr294Terfs) in exon 8. In silico analysis supported the deleterious effect of the variant. This study extends GLB1mutation spectrum and should benefit genetic counselling and prenatal diagnosis of the affected family.

    • Author Affiliations



      1. Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-i-Azam University, Islamabad 45320, Pakistan
      2. Department of Pediatric Gastroenterology, The Children’s Hospital and the Institute of Child Health, Lahore 54600, Pakistan
    • Dates

  • Journal of Genetics | News

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      Posted on July 25, 2019

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