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Expanding the Phenotype of B3GALNT2-Related Disorders
Dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) that include a broad phenotypic spectrum ranging from late-onset limb-girdle muscular dystrophy to severe muscle–eye–brain disease, Walker–Warburg syndrome, and Fukuyama congenital muscular dystrophy. In addition to clinical...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9024883/ https://www.ncbi.nlm.nih.gov/pubmed/35456500 http://dx.doi.org/10.3390/genes13040694 |
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author | D’haenens, Erika Vergult, Sarah Menten, Björn Dheedene, Annelies Kooy, R. Frank Callewaert, Bert |
author_facet | D’haenens, Erika Vergult, Sarah Menten, Björn Dheedene, Annelies Kooy, R. Frank Callewaert, Bert |
author_sort | D’haenens, Erika |
collection | PubMed |
description | Dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) that include a broad phenotypic spectrum ranging from late-onset limb-girdle muscular dystrophy to severe muscle–eye–brain disease, Walker–Warburg syndrome, and Fukuyama congenital muscular dystrophy. In addition to clinical heterogeneity, CMDs are characterized by genetic heterogeneity. To date, 18 genes have been associated with CMDs. One of them is B3GALNT2, which encodes the β-1,3-N-acetylgalactosaminyltransferase 2 that glycosylates α-dystroglycan. In this study, using exome sequencing, we identify a homozygous frameshift variant in B3GALNT2 due to a mixed uniparental disomy of chromosome 1 in a 7-year-old girl with global developmental delay, severely delayed active language development, and autism spectrum disorder but without any symptoms of muscular dystrophy. In addition to this case, we also provide an overview of all previously reported cases, further expanding the phenotypic spectrum. |
format | Online Article Text |
id | pubmed-9024883 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-90248832022-04-23 Expanding the Phenotype of B3GALNT2-Related Disorders D’haenens, Erika Vergult, Sarah Menten, Björn Dheedene, Annelies Kooy, R. Frank Callewaert, Bert Genes (Basel) Article Dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) that include a broad phenotypic spectrum ranging from late-onset limb-girdle muscular dystrophy to severe muscle–eye–brain disease, Walker–Warburg syndrome, and Fukuyama congenital muscular dystrophy. In addition to clinical heterogeneity, CMDs are characterized by genetic heterogeneity. To date, 18 genes have been associated with CMDs. One of them is B3GALNT2, which encodes the β-1,3-N-acetylgalactosaminyltransferase 2 that glycosylates α-dystroglycan. In this study, using exome sequencing, we identify a homozygous frameshift variant in B3GALNT2 due to a mixed uniparental disomy of chromosome 1 in a 7-year-old girl with global developmental delay, severely delayed active language development, and autism spectrum disorder but without any symptoms of muscular dystrophy. In addition to this case, we also provide an overview of all previously reported cases, further expanding the phenotypic spectrum. MDPI 2022-04-14 /pmc/articles/PMC9024883/ /pubmed/35456500 http://dx.doi.org/10.3390/genes13040694 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article D’haenens, Erika Vergult, Sarah Menten, Björn Dheedene, Annelies Kooy, R. Frank Callewaert, Bert Expanding the Phenotype of B3GALNT2-Related Disorders |
title | Expanding the Phenotype of B3GALNT2-Related Disorders |
title_full | Expanding the Phenotype of B3GALNT2-Related Disorders |
title_fullStr | Expanding the Phenotype of B3GALNT2-Related Disorders |
title_full_unstemmed | Expanding the Phenotype of B3GALNT2-Related Disorders |
title_short | Expanding the Phenotype of B3GALNT2-Related Disorders |
title_sort | expanding the phenotype of b3galnt2-related disorders |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9024883/ https://www.ncbi.nlm.nih.gov/pubmed/35456500 http://dx.doi.org/10.3390/genes13040694 |
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