Open AccessAlpha-mannosidosis from India due to a novel pathogenic variant in MAN2B1 gene
Author(s) -
VykuntarajuKammasandra Gowda,
VarunvenkatM Srinivasan,
AshwinV Sardesai,
SanjayK Shivappa
Publication year - 2021
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/jpn.jpn_71_20
Subject(s) - medicine , gene , alpha (finance) , genetics , computational biology , biology , surgery , construct validity , patient satisfaction
Alpha-mannosidosis is a lysosomal storage disorder caused by mutations in MAN2B1 gene. A 7-year-old girl child, born of a consanguineous marriage, presented with developmental delay, seizures, and hearing impairment. On examination, she had coarse features without hepatosplenomegaly. On investigations, low levels of the enzyme alpha-mannosidase level were observed. Targeted next-generation sequencing revealed a novel pathogenic variant p.Trp469Ter on exon 11 of MAN2B1 gene.