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

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 investigatio...

Descripción completa

Detalles Bibliográficos
Autores principales: Gowda, Vykuntaraju Kammasandra, Srinivasan, Varunvenkat M, Sardesai, Ashwin V, Shivappa, Sanjay K
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9496613/
https://www.ncbi.nlm.nih.gov/pubmed/36160623
http://dx.doi.org/10.4103/jpn.JPN_71_20
Descripción
Sumario: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.

Ejemplares similares