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Biomolecules
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New Insight into the Molecular Genetics of Neurodevelopmental Disorders
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New Insight into the Molecular Genetics of Neurodevelopmental Disorders

A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Genetics".

Deadline for manuscript submissions: 31 December 2025 | Viewed by 8978

Special Issue Editors

Dr. Luciana Musante

E-Mail Website
Guest Editor
Genetics Unit, Institute for Maternal and Child Health, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) Burlo Garofolo, 34137 Trieste, Italy
Interests: neurodevelopment disorders (NDDs) and epilepsy; next-generation sequencing (NGS); medical genetics; molecular genetics; functional genomics
Dr. Flavio Faletra

E-Mail Website
Guest Editor
Institute of Medical Genetics, Academic Hospital "Azienda Sanitaria Universitaria Friuli Centrale", 33100 Udine, Italy
Interests: neurodevelopment disorders (NDDs) and epilepsy; gene discovery; clinical genetics; dysmorphology

Special Issue Information

Dear Colleagues,

Neurodevelopmental disorders (NDDs) are a group of rare diseases mainly of genetic origin, resulting from abnormal brain development and characterized by impaired cognition, communication, adaptive functioning deficits, and impaired psychomotor skills. NDDs which include rare genetic syndromes, intellectual disability (ID), autism spectrum disorder (ASD) and epilepsy, have proven to be genetically and phenotypically heterogeneous raising unexpected difficulties to the phenotype-driven approach to diagnosis. The advances in genetic testing achieved through Next Generation Sequencing (NGS) have shown an enormous improvement in discovering genes associated with NDDs. However, interpreting the pathogenetic role of variants of unknown significance requires rigorous evaluation of multiple lines of evidence, including the functional effect of the variants at the protein, cellular, or model organism levels. With a better understanding of the molecular pathomechanisms and phenotypic spectra, patient management can be improved and targeted therapeutics may become more available.

This Special Issue aims to provide updates on New Insight into the Molecular Genetics of Neurodevelopmental Disorders.

We welcome Research Articles, Reviews, and Communications focused on the issue topic, including molecular, functional or animal studies modelling specific disorders and deep genotype-phenotype correlation. We look forward to your valuable contributions.

Dr. Luciana Musante
Dr. Flavio Faletra
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. Biomolecules 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 2700 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
  • next generation sequencing
  • pathomechanisms
  • phenotypic spectra
  • phenotype-genotype correlation

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Published Papers (4 papers)

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Research

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28 pages, 3624 KiB  
Article
In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder
by Agnese Feresin, Mathilde Lefebvre, Emilie Sjøstrøm, Caterina Zanus, Elisa Paccagnella, Irene Bruno, Erica Valencic, Anna Morgan, Alberto Tommasini, Christel Thauvin, Allan Bayat, Giorgia Girotto and Luciana Musante
Biomolecules 2024, 14(12), 1626; https://doi.org/10.3390/biom14121626 - 18 Dec 2024
Viewed by 1256
Abstract
Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in PIGW. This rare disorder has previously been described in only 12 patients. We report four novel patients: two sib [...] Read more.
Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in PIGW. This rare disorder has previously been described in only 12 patients. We report four novel patients: two sib fetuses with congenital anomalies affecting several organs, including the heart; a living girl with tetralogy of Fallot, global developmental delay, behavioral abnormalities, and atypic electroencephalography (EEG) without epilepsy; a girl with early-onset, treatment-resistant seizures, developmental regression, and recurrent infections, that ultimately passed away prematurely due to pneumonia. We also illustrate evolving facial appearance and biochemical abnormalities. We identify two novel genotypes and the first frameshift variant, supporting a loss-of-function pathogenic mechanism. By merging our cohort with patients documented in the literature, we deeply analyzed the clinical and genetic features of 16 patients with PIGW-related disorder, revealing a severe multisystemic condition deserving complex management and with uncertain long-term prognosis. We consider the role of PIGW within the critical 17q12 region, which is already associated with genomic disorders caused by deletion or duplication and characterized by variable expressivity. Finally, we discuss PIGW dosage effects and a second hit hypothesis in human development and disease. Full article
(This article belongs to the Special Issue New Insight into the Molecular Genetics of Neurodevelopmental Disorders)
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23 pages, 1045 KiB  
Article
Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes
by Leo McKay, Berardino Petrelli, Molly Pind, James N. Reynolds, Richard F. Wintle, Albert E. Chudley, Britt Drögemöller, Abraham Fainsod, Stephen W. Scherer, Ana Hanlon-Dearman and Geoffrey G. Hicks
Biomolecules 2024, 14(5), 569; https://doi.org/10.3390/biom14050569 - 10 May 2024
Cited by 1 | Viewed by 1983
Abstract
Fetal Alcohol Spectrum Disorder (FASD) is a common neurodevelopmental disorder that affects an estimated 2–5% of North Americans. FASD is induced by prenatal alcohol exposure (PAE) during pregnancy and while there is a clear genetic contribution, few genetic factors are currently identified or [...] Read more.
Fetal Alcohol Spectrum Disorder (FASD) is a common neurodevelopmental disorder that affects an estimated 2–5% of North Americans. FASD is induced by prenatal alcohol exposure (PAE) during pregnancy and while there is a clear genetic contribution, few genetic factors are currently identified or understood. In this study, using a candidate gene approach, we performed a genetic variant analysis of retinoic acid (RA) metabolic and developmental signaling pathway genes on whole exome sequencing data of 23 FASD-diagnosed individuals. We found risk and resilience alleles in ADH and ALDH genes known to normally be involved in alcohol detoxification at the expense of RA production, causing RA deficiency, following PAE. Risk and resilience variants were also identified in RA-regulated developmental pathway genes, especially in SHH and WNT pathways. Notably, we also identified significant variants in the causative genes of rare neurodevelopmental disorders sharing comorbidities with FASD, including STRA6 (Matthew–Wood), SOX9 (Campomelic Dysplasia), FDG1 (Aarskog), and 22q11.2 deletion syndrome (TBX1). Although this is a small exploratory study, the findings support PAE-induced RA deficiency as a major etiology underlying FASD and suggest risk and resilience variants may be suitable biomarkers to determine the risk of FASD outcomes following PAE. Full article
(This article belongs to the Special Issue New Insight into the Molecular Genetics of Neurodevelopmental Disorders)
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Review

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32 pages, 2248 KiB  
Review
Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies
by Alexandra D. Medyanik, Polina E. Anisimova, Angelina O. Kustova, Victor S. Tarabykin and Elena V. Kondakova
Biomolecules 2025, 15(1), 133; https://doi.org/10.3390/biom15010133 - 15 Jan 2025
Viewed by 2543
Abstract
Developmental and epileptic encephalopathies (DEEs) are a group of neuropediatric diseases associated with epileptic seizures, severe delay or regression of psychomotor development, and cognitive and behavioral deficits. What sets DEEs apart is their complex interplay of epilepsy and developmental delay, often driven by [...] Read more.
Developmental and epileptic encephalopathies (DEEs) are a group of neuropediatric diseases associated with epileptic seizures, severe delay or regression of psychomotor development, and cognitive and behavioral deficits. What sets DEEs apart is their complex interplay of epilepsy and developmental delay, often driven by genetic factors. These two aspects influence one another but can develop independently, creating diagnostic and therapeutic challenges. Intellectual disability is severe and complicates potential treatment. Pathogenic variants are found in 30–50% of patients with DEE. Many genes mutated in DEEs encode ion channels, causing current conduction disruptions known as channelopathies. Although channelopathies indeed make up a significant proportion of DEE cases, many other mechanisms have been identified: impaired neurogenesis, metabolic disorders, disruption of dendrite and axon growth, maintenance and synapse formation abnormalities —synaptopathies. Here, we review recent publications on non-channelopathies in DEE with an emphasis on the mechanisms linking epileptiform activity with intellectual disability. We focus on three major mechanisms of intellectual disability in DEE and describe several recently identified genes involved in the pathogenesis of DEE. Full article
(This article belongs to the Special Issue New Insight into the Molecular Genetics of Neurodevelopmental Disorders)
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18 pages, 336 KiB  
Review
Molecular Genetics of Acquired Temporal Lobe Epilepsy
by Anne-Marie Neumann and Stefan Britsch
Biomolecules 2024, 14(6), 669; https://doi.org/10.3390/biom14060669 - 7 Jun 2024
Cited by 1 | Viewed by 2087
Abstract
An epilepsy diagnosis reduces a patient’s quality of life tremendously, and it is a fate shared by over 50 million people worldwide. Temporal lobe epilepsy (TLE) is largely considered a nongenetic or acquired form of epilepsy that develops in consequence of neuronal trauma [...] Read more.
An epilepsy diagnosis reduces a patient’s quality of life tremendously, and it is a fate shared by over 50 million people worldwide. Temporal lobe epilepsy (TLE) is largely considered a nongenetic or acquired form of epilepsy that develops in consequence of neuronal trauma by injury, malformations, inflammation, or a prolonged (febrile) seizure. Although extensive research has been conducted to understand the process of epileptogenesis, a therapeutic approach to stop its manifestation or to reliably cure the disease has yet to be developed. In this review, we briefly summarize the current literature predominately based on data from excitotoxic rodent models on the cellular events proposed to drive epileptogenesis and thoroughly discuss the major molecular pathways involved, with a focus on neurogenesis-related processes and transcription factors. Furthermore, recent investigations emphasized the role of the genetic background for the acquisition of epilepsy, including variants of neurodevelopmental genes. Mutations in associated transcription factors may have the potential to innately increase the vulnerability of the hippocampus to develop epilepsy following an injury—an emerging perspective on the epileptogenic process in acquired forms of epilepsy. Full article
(This article belongs to the Special Issue New Insight into the Molecular Genetics of Neurodevelopmental Disorders)
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