A novel homozygous GLB1 pathogenic variant identified in two cases of infantile GM1 gangliosidosis.
5 affiliations
- 1Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
- 2Genetic of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
- 3Department of Medical Genetics, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.
- 4Genetic of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran. [email protected].
- 5Department of Medical Genetics, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran. [email protected].
Abstract
GM1 gangliosidosis is a rare genetic disorder that affects lysosomes. It is caused by variants in the GLB1 gene, which leads to a lack of the enzyme β-galactosidase. The infantile form (Type I) is the most severe. It begins in the first months of life and has a poor prognosis. We report two cases of infantile GM1 gangliosidosis from two consanguineous families.Patient I, evaluated at 9 months, showed developmental delays that began at 3 months, along with distinct physical features and significantly reduced levels of β-galactosidase enzyme activity. Patient II, also evaluated at 4 months, presented with severe neurological symptoms, cherry-red spots, and hepatosplenomegaly. This patient also harbored a novel homozygous variant c.169T > C, p.(Tyr57His) in the GLB1 gene not previously reported. These cases show the range of symptoms in infantile GM1 gangliosidosis and provide new genetic information by identifying a novel pathogenic variant. Early diagnosis through enzyme testing and genetic analysis is vital for advising families and developing prevention strategies in high-risk groups.
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BibTeX
@article{salari2026novel,
title = {{A novel homozygous GLB1 pathogenic variant identified in two cases of infantile GM1 gangliosidosis.}},
author = {Shahram Salari and Sara Kashani and Shayan Hamdollahzadeh and Anoosh Naghavi},
journal = {Molecular cytogenetics},
year = {2026},
month = aug,
doi = {10.1186/s13039-026-00754-7},
url = {https://europepmc.org/article/MED/42963574},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - A novel homozygous GLB1 pathogenic variant identified in two cases of infantile GM1 gangliosidosis.
AU - Shahram Salari
AU - Sara Kashani
AU - Shayan Hamdollahzadeh
AU - Anoosh Naghavi
PY - 2026
DA - 2026/08/03
JO - Molecular cytogenetics
DO - 10.1186/s13039-026-00754-7
UR - https://europepmc.org/article/MED/42963574
AB - GM1 gangliosidosis is a rare genetic disorder that affects lysosomes. It is caused by variants in the GLB1 gene, which leads to a lack of the enzyme β-galactosidase. The infantile form (Type I) is the most severe. It begins in the first months of life and has a poor prognosis. We report two cases of infantile GM1 gangliosidosis from two consanguineous families.Patient I, evaluated at 9 months, showed developmental delays that began at 3 months, along with distinct physical features and significantly reduced levels of β-galactosidase enzyme activity. Patient II, also evaluated at 4 months, presented with severe neurological symptoms, cherry-red spots, and hepatosplenomegaly. This patient also harbored a novel homozygous variant c.169T > C, p.(Tyr57His) in the GLB1 gene not previously reported. These cases show the range of symptoms in infantile GM1 gangliosidosis and provide new genetic information by identifying a novel pathogenic variant. Early diagnosis through enzyme testing and genetic analysis is vital for advising families and developing prevention strategies in high-risk groups.
SN - 1755-8166
ER -