Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene

J Pediatr Neurosci. 2021 Jul-Sep;16(3):249-251. doi: 10.4103/jpn.JPN_71_20.

PMID: 36160623

Vykuntaraju Kammasandra Gowda, Varunvenkat M Srinivasan, Ashwin V Sardesai

Highlights: This article presents a 7-year-old girl child, born of a consanguineous marriage, presented with developmental delay, seizures, and hearing impairment.

Abstract

Background: A lysosomal storage disorder called alpha-mannosidosis is brought on by MAN2B1 gene mutations.

Results: A consanguineous marriage resulted in the birth of a 7-year-old girl who was diagnosed with hearing loss, seizures, and developmental delay. She was found to have coarse features but no hepatosplenomegaly. Investigations revealed low amounts of the enzyme alpha-mannosidase.

Conclusion: Targeted next-generation sequencing revealed a novel pathogenic variant p.Trp469Ter on exon 11 of MAN2B1 gene.

Keywords: Alpha-mannosidosis, Indian girl, MAN2B1 gene