Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: D’haenens, Erika, Vergult, Sarah, Menten, Björn, Dheedene, Annelies, Kooy, R. Frank, Callewaert, Bert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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
_version_ 1784690721226227712
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
work_keys_str_mv AT dhaenenserika expandingthephenotypeofb3galnt2relateddisorders
AT vergultsarah expandingthephenotypeofb3galnt2relateddisorders
AT mentenbjorn expandingthephenotypeofb3galnt2relateddisorders
AT dheedeneannelies expandingthephenotypeofb3galnt2relateddisorders
AT kooyrfrank expandingthephenotypeofb3galnt2relateddisorders
AT callewaertbert expandingthephenotypeofb3galnt2relateddisorders