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A Child of Congenital Muscular Dystrophy-Dystroglycanopathy with Homozygous Missense Variation in Exon 3 of the ISPD Gene: A Rare Case from Odisha
Dystroglycanopathy is a type of congenital muscular dystrophy caused by mutations causing defective glycosylation of a dystrophin-associated glycoprotein, dystroglycan and as such is a very rare disease entity. We are reporting a 1-year-old girl child with dystroglycanopathy who presented with motor...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Wolters Kluwer - Medknow
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8012863/ https://www.ncbi.nlm.nih.gov/pubmed/33816389 http://dx.doi.org/10.4103/abr.abr_141_19 |
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author | Biswal, Sebaranjan Panigrahi, Debasish Mohakud, Nirmal Kumar Kumar, Manoj Swain, Natabara |
author_facet | Biswal, Sebaranjan Panigrahi, Debasish Mohakud, Nirmal Kumar Kumar, Manoj Swain, Natabara |
author_sort | Biswal, Sebaranjan |
collection | PubMed |
description | Dystroglycanopathy is a type of congenital muscular dystrophy caused by mutations causing defective glycosylation of a dystrophin-associated glycoprotein, dystroglycan and as such is a very rare disease entity. We are reporting a 1-year-old girl child with dystroglycanopathy who presented with motor predominant developmental delay. She had motor development quotient of 52, mental development quotient of 75, facial dysmorphism, mixed hypotonia with a global decrease in muscle power, and areflexia. Serum CPK level was elevated; magnetic resonance imaging brain revealed multiple intraparenchymal cysts in the cerebellum with disorganized folia. Next-generation sequencing revealed a homozygous missense mutation in exon 3 of the ISPD gene (p.Gln215His; ENST00000407010) consistent with the diagnosis of dystroglycanopathy muscle-eye-brain disease. Genetic counseling and prenatal diagnosis for subsequent pregnancies were advised for the family, apart from appropriate rehabilitation for the child. |
format | Online Article Text |
id | pubmed-8012863 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-80128632021-04-01 A Child of Congenital Muscular Dystrophy-Dystroglycanopathy with Homozygous Missense Variation in Exon 3 of the ISPD Gene: A Rare Case from Odisha Biswal, Sebaranjan Panigrahi, Debasish Mohakud, Nirmal Kumar Kumar, Manoj Swain, Natabara Adv Biomed Res Case Report Dystroglycanopathy is a type of congenital muscular dystrophy caused by mutations causing defective glycosylation of a dystrophin-associated glycoprotein, dystroglycan and as such is a very rare disease entity. We are reporting a 1-year-old girl child with dystroglycanopathy who presented with motor predominant developmental delay. She had motor development quotient of 52, mental development quotient of 75, facial dysmorphism, mixed hypotonia with a global decrease in muscle power, and areflexia. Serum CPK level was elevated; magnetic resonance imaging brain revealed multiple intraparenchymal cysts in the cerebellum with disorganized folia. Next-generation sequencing revealed a homozygous missense mutation in exon 3 of the ISPD gene (p.Gln215His; ENST00000407010) consistent with the diagnosis of dystroglycanopathy muscle-eye-brain disease. Genetic counseling and prenatal diagnosis for subsequent pregnancies were advised for the family, apart from appropriate rehabilitation for the child. Wolters Kluwer - Medknow 2020-11-28 /pmc/articles/PMC8012863/ /pubmed/33816389 http://dx.doi.org/10.4103/abr.abr_141_19 Text en Copyright: © 2020 Advanced Biomedical Research http://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 Biswal, Sebaranjan Panigrahi, Debasish Mohakud, Nirmal Kumar Kumar, Manoj Swain, Natabara A Child of Congenital Muscular Dystrophy-Dystroglycanopathy with Homozygous Missense Variation in Exon 3 of the ISPD Gene: A Rare Case from Odisha |
title | A Child of Congenital Muscular Dystrophy-Dystroglycanopathy with Homozygous Missense Variation in Exon 3 of the ISPD Gene: A Rare Case from Odisha |
title_full | A Child of Congenital Muscular Dystrophy-Dystroglycanopathy with Homozygous Missense Variation in Exon 3 of the ISPD Gene: A Rare Case from Odisha |
title_fullStr | A Child of Congenital Muscular Dystrophy-Dystroglycanopathy with Homozygous Missense Variation in Exon 3 of the ISPD Gene: A Rare Case from Odisha |
title_full_unstemmed | A Child of Congenital Muscular Dystrophy-Dystroglycanopathy with Homozygous Missense Variation in Exon 3 of the ISPD Gene: A Rare Case from Odisha |
title_short | A Child of Congenital Muscular Dystrophy-Dystroglycanopathy with Homozygous Missense Variation in Exon 3 of the ISPD Gene: A Rare Case from Odisha |
title_sort | child of congenital muscular dystrophy-dystroglycanopathy with homozygous missense variation in exon 3 of the ispd gene: a rare case from odisha |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8012863/ https://www.ncbi.nlm.nih.gov/pubmed/33816389 http://dx.doi.org/10.4103/abr.abr_141_19 |
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