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Genetic Disorders with Developmental Delay and Intellectual Disability
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Genetic Disorders with Developmental Delay and Intellectual Disability

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 (25 March 2023) | Viewed by 10297

Special Issue Editor

Prof. Dr. Maria Piccione

E-Mail Website
Guest Editor
Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Via Trabucco, 90146 Palermo, Italy
Interests: chromosomal syndromes; congenital malformations; genetic disorders with developmental delay/intellectual disability; epigenetic diseases; prenatal genetic counseling

Special Issue Information

Dear Colleagues,

Neurodevelopmental disorders (attention deficit hyperactivity disorder, or ADHD, autism, learning disability, intellectual disability, conduct disorders, cerebral palsy, and impairments in vision and hearing) are disabilities associated primarily with the functioning of the neurological system and brain. The diagnosis and treatment of these disorders can be difficult. Most neurodevelopmental disorders have complex and multiple contributors rather than any one clear cause. Although a wide range of environmental risk factors can influence neurological development (lower socioeconomic status, physical environment, prenatal or infant exposure to certain environments, the use of drugs, alcohol, and tobacco during pregnancy, premature birth, and a low birth weight), genetic factors can play an important role in many neurodevelopmental disorders, and some cases of certain conditions are associated with specific genes.

The aim of this Special Issue is to provide a genotype/phenotype correlation for genes whose phenotype has not been clearly defined, in addition to the identification of genes/pathways and new genes/diseases. For families and patients, this will translate into better diagnoses and counseling, and for researchers, this will allow them to enroll participants for research projects, provide valuable phenotypic data, and place them in the front line for potential clinical trials.

Prof. Dr. Maria Piccione
Guest Editor

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 
  • next-generation sequencing 
  • genes/pathways 
  • phenotype

Published Papers (4 papers)

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Research

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16 pages, 1300 KiB  
Article
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome
by Barbara Testa, Giuseppina Conteduca, Marina Grasso, Massimiliano Cecconi, Francesca Lantieri, Chiara Baldo, Alessia Arado, Laura Andraghetti, Michela Malacarne, Donatella Milani, Domenico Coviello and Sotos Collaborative Group
Genes 2023, 14(2), 295; https://doi.org/10.3390/genes14020295 - 22 Jan 2023
Cited by 7 | Viewed by 1994
Abstract
Sotos syndrome is a rare genetic disorder caused by haploinsufficiency of the NSD1 (nuclear receptor binding SET domain containing protein 1) gene. No clinical diagnostic consensus criteria are published yet, and molecular analysis reduces the clinical diagnostic uncertainty. We screened 1530 unrelated patients [...] Read more.
Sotos syndrome is a rare genetic disorder caused by haploinsufficiency of the NSD1 (nuclear receptor binding SET domain containing protein 1) gene. No clinical diagnostic consensus criteria are published yet, and molecular analysis reduces the clinical diagnostic uncertainty. We screened 1530 unrelated patients enrolled from 2003 to 2021 at Galliera Hospital and Gaslini Institute in Genoa. NSD1 variants were identified in 292 patients including nine partial gene deletions, 13 microdeletions of the entire NSD1 gene, and 115 novel intragenic variants never previously described. Thirty-two variants of uncertain significance (VUS) out of 115 identified were re-classified. Twenty-five missense NSD1 VUS (25/32, 78.1%) changed class to likely pathogenic or likely benign, showing a highly significant shift in class (p < 0.01). Apart from NSD1, we identified variants in additional genes (NFIX, PTEN, EZH2, TCF20, BRWD3, PPP2R5D) in nine patients analyzed by the NGS custom panel. We describe the evolution of diagnostic techniques in our laboratory to ascertain molecular diagnosis, the identification of 115 new variants, and the re-classification of 25 VUS in NSD1. We underline the utility of sharing variant classification and the need to improve communication between the laboratory staff and the referring physician. Full article
(This article belongs to the Special Issue Genetic Disorders with Developmental Delay and Intellectual Disability)
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9 pages, 854 KiB  
Article
Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights
by Alessandro Vaisfeld, Sara Taormina, Alessandro Simonati and Giovanni Neri
Genes 2022, 13(10), 1792; https://doi.org/10.3390/genes13101792 - 4 Oct 2022
Cited by 2 | Viewed by 2889
Abstract
ATR-X syndrome is a rare X-linked congenital disorder caused by hypomorphic mutations in the ATRX gene. A typical phenotype is well defined, with cognitive impairment, characteristic facial dysmorphism, hypotonia, gastrointestinal, skeletal, urogenital, and hematological anomalies as characteristic features. With a few notable exceptions, [...] Read more.
ATR-X syndrome is a rare X-linked congenital disorder caused by hypomorphic mutations in the ATRX gene. A typical phenotype is well defined, with cognitive impairment, characteristic facial dysmorphism, hypotonia, gastrointestinal, skeletal, urogenital, and hematological anomalies as characteristic features. With a few notable exceptions, general phenotypic differences related to specific ATRX protein domains are not well established and should not be used, at least at the present time, for prognostic purposes. The phenotypic spectrum and genotypic correlations are gradually broadening, mainly due to rapidly increasing accessibility to NGS. In this scenario, it is important to continue describing new patients, illustrating the mode and age of onset of the typical and non-typical features, the classical ones and those tentatively added more recently. This report of well-characterized and mostly unreported patients expands the ATR-X clinical spectrum and emphasizes the importance of better clinical delineation of the condition. We compare our findings to those of the largest ATR-X series reported so far, discussing possible explanations for the different drawn conclusions. Full article
(This article belongs to the Special Issue Genetic Disorders with Developmental Delay and Intellectual Disability)
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8 pages, 479 KiB  
Case Report
SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review
by Matheus de Mello Copelli, Eleonore Pairet, Milena Atique-Tacla, Társis Paiva Vieira, Simone Appenzeller, Raphaël Helaers, Miikka Vikkula and Vera Lúcia Gil-da-Silva-Lopes
Genes 2023, 14(4), 882; https://doi.org/10.3390/genes14040882 - 8 Apr 2023
Cited by 1 | Viewed by 2942
Abstract
SATB2-associated syndrome (SAS) is a rare condition, and it is characterized by severe developmental delay/intellectual disability, especially severe speech delay/or absence, craniofacial abnormalities, and behavioral problems. Most of the published reports are limited to children, with little information about the natural history [...] Read more.
SATB2-associated syndrome (SAS) is a rare condition, and it is characterized by severe developmental delay/intellectual disability, especially severe speech delay/or absence, craniofacial abnormalities, and behavioral problems. Most of the published reports are limited to children, with little information about the natural history of the disease and the possible novel signs and symptoms or behavioral changes in adulthood. We describe the management and follow-up of a 25-year-old male with SAS due to a de novo heterozygous nonsense variant SATB2:c.715C>T:p.(Arg239*) identified by whole-exome sequencing and review the literature. The case herein described contributes to a better characterization of the natural history of this genetic condition and in addition to the genotype–phenotype correlation of the SATB2:c.715C>T:p.(Arg239*) variant in SAS, highlights some particularities of its management. Full article
(This article belongs to the Special Issue Genetic Disorders with Developmental Delay and Intellectual Disability)
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8 pages, 586 KiB  
Case Report
Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion
by Ornella Galesi, Francesco Domenico Di Blasi, Lucia Grillo, Flaviana Elia, Maria Concetta Giambirtone, Maria Grazia Figura, Biagio Rizzo, Serafino Buono and Corrado Romano
Genes 2022, 13(11), 1926; https://doi.org/10.3390/genes13111926 - 23 Oct 2022
Cited by 1 | Viewed by 1669
Abstract
The authors report on a boy with dyslexia and attention deficit hyperactivity disorder. A protocol of standardized tests assessed the neuroadaptive profile, allowing deep neuropsychiatric phenotyping. In addition to the diagnosis of dyslexia and attention deficit hyperactivity disorder, such methodology led to endeavor [...] Read more.
The authors report on a boy with dyslexia and attention deficit hyperactivity disorder. A protocol of standardized tests assessed the neuroadaptive profile, allowing deep neuropsychiatric phenotyping. In addition to the diagnosis of dyslexia and attention deficit hyperactivity disorder, such methodology led to endeavor cognitive, adaptive, and academic skills. Chromosomal microarray analysis detected a 452.4 Kb de novo heterozygous microdeletion in chromosomal region 1p34.3, including seven OMIM genes. The authors took a thorough evaluation of the association to the phenotype of the deleted genes. Further reports could strengthen such association. Full article
(This article belongs to the Special Issue Genetic Disorders with Developmental Delay and Intellectual Disability)
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