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Advances in Genetic Diagnosis for Neurodevelopmental Disorders
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Advances in Genetic Diagnosis for Neurodevelopmental Disorders

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Technologies and Resources for Genetics".

Deadline for manuscript submissions: closed (25 March 2022) | Viewed by 2308

Special Issue Editors

Prof. Dr. Sarah Vergult

E-Mail Website
Guest Editor
Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent University, Ghent, Belgium
Interests: neurodevelopmental disorders; whole-genome sequencing; 3D genome; noncoding variants; transcriptomics
Dr. Annelies Dheedene

E-Mail Website
Guest Editor
Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent University, Ghent, Belgium
Interests: neurodevelopmental disorders; whole-genome sequencing; long-read sequencing

Special Issue Information

Dear Colleagues,

Neurodevelopmental disorders (NDDs) are a heterogeneous group of disorders in which normal development and functioning of the brain is disrupted. They include, among others, autism spectrum disorder (ASD), intellectual disability (ID), schizophrenia (SCZ), and developmental delay (DD). Although the emergence of novel sequencing technologies has greatly improved the diagnostic yield for NDDs, there is still room for improvement.

Therefore, in this Special Issue, we invite articles reporting new candidate genes and/or focusing on the use of recent advances in (sequencing) technologies (e.g. whole genome sequencing, RNA-seq, long read sequencing, Hi-C, optical mapping) or the so called “multi-omics” toolbox to determine the genetic diagnosis in patients with NDDs. Furthermore, we also encourage articles focusing on the identification of (putative) causal noncoding (structural) variants for NDDs.

Prof. Dr. Sarah Vergult

Dr. Annelies Dheedene
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • neurodevelopmental disorders
  • whole-genome sequencing
  • transcriptomics
  • long-read sequencing
  • optical mapping
  • 3D genome
  • noncoding variation

Published Papers (1 paper)

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Research

9 pages, 2284 KiB  
Article
Expanding the Phenotype of B3GALNT2-Related Disorders
by Erika D’haenens, Sarah Vergult, Björn Menten, Annelies Dheedene, R. Frank Kooy and Bert Callewaert
Genes 2022, 13(4), 694; https://doi.org/10.3390/genes13040694 - 14 Apr 2022
Cited by 4 | Viewed by 1748
Abstract
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. [...] Read more.
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. Full article
(This article belongs to the Special Issue Advances in Genetic Diagnosis for Neurodevelopmental Disorders)
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