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Brain Sciences
Special Issues
Intellectual Disability: From Genetics to Clinical Neuroscience, and Back
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Intellectual Disability: From Genetics to Clinical Neuroscience, and Back

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Developmental Neuroscience".

Deadline for manuscript submissions: closed (10 November 2021) | Viewed by 10255

Special Issue Editor

Dr. Corrado Romano

E-Mail Website
Guest Editor
1. Department of Biomedical Sciences and Biotechnologies (Biometec), The University of Catania, 95123 Catania, Italy
2. The Oasi Research Institute-IRCCS, 94018 Troina, Italy
Interests: genomic disorders; neurodevelopmental disorders; intellectual disability; Down syndrome; multiple congenital anomalies; genes
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The search for genes associated to intellectual disability has shown an impressive increase during the past decade. Technological improvements such as next-generation sequencing have contributed greatly to this acceleration. The way of diagnosing a new genetic syndrome with intellectual disability has progressively shifted from the old “phenotype first” approach to the new “genotype first” one. Subsequently, new genetic syndromes are usually dissected by clinical neuroscientists, which learn the phenotype of patients discovered by their genotype. The aim of this Special Issue is to collect outstanding papers dealing with new avenues of diagnostic tools for the diagnosis of new genes associated to intellectual disability, but also deep phenotyping approaches from clinical neuroscientists, discovering new endophenotypes, and providing new insights into laboratory results.

Dr. Corrado Romano
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. Brain Sciences 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 2200 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

  • intellectual disability
  • gene
  • clinical neuroscience
  • next-generation sequencing
  • genotype first
  • endophenotype

Published Papers (4 papers)

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Editorial

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3 pages, 185 KiB  
Editorial
Genetics and Clinical Neuroscience in Intellectual Disability
by Corrado Romano
Brain Sci. 2022, 12(3), 338; https://doi.org/10.3390/brainsci12030338 - 02 Mar 2022
Cited by 2 | Viewed by 1676
Abstract
This editorial summarizes the main information leading to a Special Issue on intellectual disability [...] Full article
(This article belongs to the Special Issue Intellectual Disability: From Genetics to Clinical Neuroscience, and Back)

Research

Jump to: Editorial, Other

8 pages, 888 KiB  
Article
Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes
by Mariateresa Di Stazio, Stefania Bigoni, Nicola Iuso, Josef Vuch, Rita Selvatici, Sheila Ulivi and Pio Adamo d’Adamo
Brain Sci. 2021, 11(8), 1105; https://doi.org/10.3390/brainsci11081105 - 22 Aug 2021
Cited by 1 | Viewed by 2387
Abstract
Background: Coffin–Lowry syndrome (CLS) is a syndromic form of X-linked intellectual disability, in which specific associated facial, hand, and skeletal abnormalities are diagnostic features. Methods: In the present study, an unreported missense genetic variant of the ribosomal S6 kinase 2 (RSK2) [...] Read more.
Background: Coffin–Lowry syndrome (CLS) is a syndromic form of X-linked intellectual disability, in which specific associated facial, hand, and skeletal abnormalities are diagnostic features. Methods: In the present study, an unreported missense genetic variant of the ribosomal S6 kinase 2 (RSK2) gene has been identified, by next-generation sequencing, in two related males with two different phenotypes of intellectual disability (ID) and peculiar facial dysmorphisms. We performed functional studies on this variant and another one, already reported in the literature, involving the same amino acid residue but, to date, without an efficient characterization. Results: Our study demonstrated that the two variants involving residue 189 significantly impaired its kinase activity. Conclusions: We detected a loss-of-function RSK2 mutation with loss in kinase activity in a three-generation family with an X-linked ID. Full article
(This article belongs to the Special Issue Intellectual Disability: From Genetics to Clinical Neuroscience, and Back)
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15 pages, 674 KiB  
Article
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
by Floriana Valentino, Lucia Pia Bruno, Gabriella Doddato, Annarita Giliberti, Rossella Tita, Sara Resciniti, Chiara Fallerini, Mirella Bruttini, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Francesca Mari, Anna Maria Pinto, Francesca Fava, Margherita Baldassarri, Alessandra Fabbiani, Vittoria Lamacchia, Elisa Benetti, Kristina Zguro, Simone Furini, Alessandra Renieri and Francesca Arianiadd Show full author list remove Hide full author list
Brain Sci. 2021, 11(7), 936; https://doi.org/10.3390/brainsci11070936 - 16 Jul 2021
Cited by 17 | Viewed by 3125
Abstract
Intellectual disability (ID) and autism spectrum disorder (ASD) belong to neurodevelopmental disorders and occur in ~1% of the general population. Due to disease heterogeneity, identifying the etiology of ID and ASD remains challenging. Exome sequencing (ES) offers the opportunity to rapidly identify variants [...] Read more.
Intellectual disability (ID) and autism spectrum disorder (ASD) belong to neurodevelopmental disorders and occur in ~1% of the general population. Due to disease heterogeneity, identifying the etiology of ID and ASD remains challenging. Exome sequencing (ES) offers the opportunity to rapidly identify variants associated with these two entities that often co-exist. Here, we performed ES in a cohort of 200 patients: 84 with isolated ID and 116 with ID and ASD. We identified 41 pathogenic variants with a detection rate of 22% (43/200): 39% in ID patients (33/84) and 9% in ID/ASD patients (10/116). Most of the causative genes are genes responsible for well-established genetic syndromes that have not been recognized for atypical phenotypic presentations. Two genes emerged as new candidates: CACNA2D1 and GPR14. In conclusion, this study reinforces the importance of ES in the diagnosis of ID/ASD and underlines that “reverse phenotyping” is fundamental to enlarge the phenotypic spectra associated with specific genes. Full article
(This article belongs to the Special Issue Intellectual Disability: From Genetics to Clinical Neuroscience, and Back)
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Other

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18 pages, 444 KiB  
Systematic Review
Ageing and Olfactory Dysfunction in Trisomy 21: A Systematic Review
by Hanani Abdul Manan and Noorazrul Yahya
Brain Sci. 2021, 11(7), 952; https://doi.org/10.3390/brainsci11070952 - 20 Jul 2021
Cited by 5 | Viewed by 2191
Abstract
Purpose: The olfactory system is particularly vulnerable in an ageing brain, both anatomically and functionally, and these brain changes are more pronounced among individuals with trisomy 21. Furthermore, the age of the system starts to deteriorate, and the mechanism involved is unclear in [...] Read more.
Purpose: The olfactory system is particularly vulnerable in an ageing brain, both anatomically and functionally, and these brain changes are more pronounced among individuals with trisomy 21. Furthermore, the age of the system starts to deteriorate, and the mechanism involved is unclear in an individual with trisomy 21. Therefore, the present review aims to summarise the available information related to this topic and to suggest questions still unanswered which can be a subject of further research. Methods: A systematic literature search of trisomy 21 and olfactory dysfunction was conducted using PubMed/MEDLINE and Scopus electronic database following PRISMA guidelines. References and citations were checked in the Google Scholar database. Reports were extracted for information on demographics and psychophysical evaluation. Then, the reports were systematically reviewed based on the effects of ageing on the three olfactory domains: threshold, discrimination, and identification. Results: Participants with trisomy 21 show an early onset of olfactory impairment, and the age effect of the olfactory deficit is fully expressed at age > 30 years old. The three olfactory domains, threshold, discrimination, and identification, are suggested to be impaired in trisomy 21 participants with age > 30 years old. Conclusions: Olfactory dysfunction in an individual with trisomy 21 commences at a relatively young age and affects the three olfactory domains. A challenge for the future is to quantitatively establish the olfactory function of an individual with trisomy 21 at all ages with more detailed measurements to further understand the pathophysiology of this brain deterioration. Full article
(This article belongs to the Special Issue Intellectual Disability: From Genetics to Clinical Neuroscience, and Back)
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