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Genes
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Genetics in Pediatric Neurodevelopmental Disorders
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Genetics in Pediatric Neurodevelopmental Disorders

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (20 October 2023) | Viewed by 5904

Special Issue Editors

Dr. Andrea Accogli

E-Mail Website
Guest Editor
1. Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada
2. Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC, Canada
Interests: neurogenetics; pediatric neurology; exome and genome sequencing; gene discovery; brain maformations; genotype and phenotype correlation
Special Issues, Collections and Topics in MDPI journals
Dr. Vincenzo Salpietro

E-Mail Website
Guest Editor
1. Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100 L'Aquila, Italy
2. Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK
Interests: neurogenetics; pediatric neurology; exome and genome sequencing; gene discovery; autism; neurodevelopmental disorders; genotype and phenotype correlation
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We aim to present the following Special Issue entitled: “Genetics in Pediatric Neurodevelopmental Disorders”.

Brain development relies on the exquisitely timed coordination of cell proliferation, differentiation, migration and organization. Disruption of this process, either by genetic or environmental processes, can cuase impairment of cerebral development and lead to a wide range of neurodevelopmental issues such as intellectual disability, brain malformations, autism and epilepsy.

In recent decades, the genetic basis for many of these disorders has been unveiled, guiding management, improving genetic counselling, providing pathophysiological insights, and aiding in the development of specific treatments. However, imaging, clinical outcomes and the genetic basis remain heterogeneous among several different neurodevelopmental disorders. Furthermore, many disorders remain poorly characterized, and imaging–phenotype as well as genotype–phenotype correlations are challenging.

The overall goal of this research topic is to:

  • Provide an overview of the clinical, radiological and pathophysiologic characterization of different types of neurodevelopmental disorders;
  • Provide an update on the genetic basis;
  • Provide an update  on the recent understanding of the pathophysiologic basis;
  • Recognize of imaging patterns;
  • Recognize of specific facial gestalt;
  • Correlate imaging and genetic findings with clinical outcomes;
  • Optimize treatments.

We welcome submissions of perspectives, original research, systematic reviews, mini reviews, brief research reports, case reports and general commentaries.

Dr. Andrea Accogli
Dr. Vincenzo Salpietro
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

  • brain malformations
  • genetics
  • neurodevelopmental disorders
  • epilepsy
  • autism
  • genotype–phenotype correlation

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Published Papers (2 papers)

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Review

10 pages, 2784 KiB  
Review
NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron
by Antonella Gambadauro, Giuseppe Donato Mangano, Karol Galletta, Francesca Granata, Antonella Riva, Laura Massella, Isabella Guzzo, Giovanni Farello, Giovanna Scorrano, Ludovica Di Francesco, Giulio Di Donato, Carolina Ianni, Armando Di Ludovico, Saverio La Bella, Pasquale Striano, Stephanie Efthymiou, Henry Houlden, Rosaria Nardello and Roberto Chimenz
Genes 2023, 14(12), 2143; https://doi.org/10.3390/genes14122143 - 27 Nov 2023
Cited by 2 | Viewed by 2201
Abstract
Pathogenic gene variants encoding nuclear pore complex (NPC) proteins were previously implicated in the pathogenesis of steroid-resistant nephrotic syndrome (SRNS). The NUP85 gene, encoding nucleoporin, is related to a very rare form of SRNS with limited genotype–phenotype information. We identified an Italian boy [...] Read more.
Pathogenic gene variants encoding nuclear pore complex (NPC) proteins were previously implicated in the pathogenesis of steroid-resistant nephrotic syndrome (SRNS). The NUP85 gene, encoding nucleoporin, is related to a very rare form of SRNS with limited genotype–phenotype information. We identified an Italian boy affected with an SRNS associated with severe neurodevelopmental impairment characterized by microcephaly, axial hypotonia, lack of achievement of motor milestones, and refractory seizures with an associated hypsarrhythmic pattern on electroencephalography. Brain magnetic resonance imaging (MRI) showed hypoplasia of the corpus callosum and a simplified gyration of the cerebral cortex. Since the age of 3 years, the boy was followed up at our Pediatric Nephrology Department for an SRNS, with a focal segmental glomerulosclerosis at renal biopsy. The boy died 32 months after SRNS onset, and a Whole-Exome Sequencing analysis revealed a novel compound heterozygous variant in NUP85 (NM_024844.5): 611T>A (p.Val204Glu), c.1904T>G (p.Leu635Arg), inherited from the father and mother, respectively. We delineated the clinical phenotypes of NUP85-related disorders, reviewed the affected individuals so far reported in the literature, and overall expanded both the phenotypic and the molecular spectrum associated with this ultra-rare genetic condition. Our study suggests a potential occurrence of severe neurological phenotypes as part of the NUP85-related clinical spectrum and highlights an important involvement of nucleoporin in brain developmental processes and neurological function. Full article
(This article belongs to the Special Issue Genetics in Pediatric Neurodevelopmental Disorders)
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14 pages, 3693 KiB  
Review
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications
by Giovanna Scorrano, Emanuele David, Elisa Calì, Roberto Chimenz, Saverio La Bella, Armando Di Ludovico, Gabriella Di Rosa, Eloisa Gitto, Kshitij Mankad, Rosaria Nardello, Giuseppe Donato Mangano, Chiara Leoni and Giorgia Ceravolo
Genes 2023, 14(12), 2111; https://doi.org/10.3390/genes14122111 - 22 Nov 2023
Cited by 4 | Viewed by 3214
Abstract
Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by multiple congenital ectodermal, cardiac and craniofacial abnormalities with a mild to severe ocular, gastrointestinal and neurological involvement. It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in [...] Read more.
Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by multiple congenital ectodermal, cardiac and craniofacial abnormalities with a mild to severe ocular, gastrointestinal and neurological involvement. It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes BRAF, MAP2K1/MEK1, MAP2K2/MEK2, KRAS or, rarely, YWHAZ, all part of the RAS-MAPK pathway. This pathway is a signal transduction cascade that plays a crucial role in normal cellular processes such as cell growth, proliferation, differentiation, survival, metabolism and migration. CFC syndrome overlaps with Noonan syndrome, Costello syndrome, neurofibromatosis type 1 and Legius syndrome, therefore making the diagnosis challenging. Neurological involvement in CFC is more severe than in other RASopathies. Phenotypic variability in CFC patients is related to the specific gene affected, without a recognized genotype–phenotype correlation for distinct pathogenic variants. Currently, there is no specific treatment for CFC syndrome. Encouraging zebrafish model system studies suggested that, in the future, MEK inhibitors could be a suitable treatment of progressive phenotypes of CFC in children. A multidisciplinary care is necessary for appropriate medical management. Full article
(This article belongs to the Special Issue Genetics in Pediatric Neurodevelopmental Disorders)
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