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...

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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
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author Gowda, Vykuntaraju Kammasandra
Srinivasan, Varunvenkat M
Sardesai, Ashwin V
Shivappa, Sanjay K
author_facet Gowda, Vykuntaraju Kammasandra
Srinivasan, Varunvenkat M
Sardesai, Ashwin V
Shivappa, Sanjay K
author_sort Gowda, Vykuntaraju Kammasandra
collection PubMed
description 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.
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spelling pubmed-94966132022-09-23 Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene Gowda, Vykuntaraju Kammasandra Srinivasan, Varunvenkat M Sardesai, Ashwin V Shivappa, Sanjay K J Pediatr Neurosci Case Report 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. Wolters Kluwer - Medknow 2021 2021-07-12 /pmc/articles/PMC9496613/ /pubmed/36160623 http://dx.doi.org/10.4103/jpn.JPN_71_20 Text en Copyright: © 2021 Journal of Pediatric Neurosciences https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Gowda, Vykuntaraju Kammasandra
Srinivasan, Varunvenkat M
Sardesai, Ashwin V
Shivappa, Sanjay K
Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene
title Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene
title_full Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene
title_fullStr Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene
title_full_unstemmed Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene
title_short Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene
title_sort alpha-mannosidosis from india due to a novel pathogenic variant in man2b1 gene
topic Case Report
url 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
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