Journal of Genetics

, Volume 97, Issue 5, pp 1445–1449 | Cite as

Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis

  • Bibi Zubaida
  • Muhammad Almas Hashmi
  • Huma Arshad Cheema
  • Muhammad NaeemEmail author
Research Note


Monosialotetrahexosylganglioside (GM1) is a rare lysosomal storage disorder caused by the deficiency of beta-galactosidase (\(\upbeta \)-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), bone marrow biopsy and urine oligosaccharide analyses suggested lysosomal storage disorder. Significantly low levels of \(\upbeta \)-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 GLB1 mutation spectrum and should benefit genetic counselling and prenatal diagnosis of the affected family.


GM1 gangliosidosis beta-galactosidase novel mutation GLB1 gene 



We thank the family members for participating in this study. The Higher Education Commission of Pakistan is acknowledged for supporting B. Z. under an Indigenous Ph.D. Fellowship scheme (PIN: 213-52789-2BM2). This research did not receive any specific grant from funding agencies in the public, commercial or not-for-profit sectors.


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Copyright information

© Indian Academy of Sciences 2018

Authors and Affiliations

  1. 1.Medical Genetics Research Laboratory, Department of BiotechnologyQuaid-i-Azam UniversityIslamabadPakistan
  2. 2.Department of Pediatric GastroenterologyThe Children’s Hospital and the Institute of Child HealthLahorePakistan

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