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Genetics of Autism Spectrum Disorders: Advances, Translational Impact, and Future...
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Genetics of Autism Spectrum Disorders: Advances, Translational Impact, and Future Directions

A special issue of Children (ISSN 2227-9067).

Deadline for manuscript submissions: closed (31 August 2021) | Viewed by 10222

Special Issue Editor

Dr. Daan van Rooij

E-Mail Website
Guest Editor
Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 HB Nijmegen, The Netherlands.
Interests: neurodevelopmental disorders; ASD; ADHD; neuroimaging; MRI; imaging genetics

Special Issue Information

Dear Colleagues,

Genetic research in neurodevelopmental disorders, and Autism Spectrum Disorder (ASD) in particular, has seen great developments in recent years. The ASD phenotype has been associated with both rare and de-novo genetic mutations in part of the patient population, as well as with a large number of common genetic variants. This ensures that a full view of the genetic architecture of ASD necessarily incorporates different types of genetic studies and methodologies. With the current Special Issue, we aim to explore the genetic architecture of ASD and related disorders, as well as to discuss new developments in the methods of genetic research.

Specifically, we are looking for contributions on the topics of genomics, epigenetics, pharmacogenetics, and the translational impact of genetics research in ASD and related disorders. We are very much looking forward to your contributions.

Best wishes,

Dr. Daan van Rooij
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. Children 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 2400 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

  • Autism Spectrum Disorder
  • ASD
  • genetics
  • genomics
  • epigenetics
  • translational research
  • pharmacogenetics
  • polygenic risk scores

Published Papers (3 papers)

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9 pages, 545 KiB  
Case Report
Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report
by Giovanna Tritto, Ivana Ricca, Marco Turi, Andrea Gemma, Filippo Muratori, Gioacchino Scarano and Fortunato Lonardo
Children 2021, 8(6), 518; https://doi.org/10.3390/children8060518 - 18 Jun 2021
Cited by 1 | Viewed by 3386
Abstract
Autism is a neurodevelopmental disorder presenting in the first 3 years of life. Deficits occur in the core areas of social communication and interaction and restricted, repetitive patterns of behavior, interests or activities. The causes of autism are unknown, but clinical genetic studies [...] Read more.
Autism is a neurodevelopmental disorder presenting in the first 3 years of life. Deficits occur in the core areas of social communication and interaction and restricted, repetitive patterns of behavior, interests or activities. The causes of autism are unknown, but clinical genetic studies show strong evidence in favor of the involvement of genetic factors in etiology. Molecular genetic studies report some associations with candidate genes, and candidate regions have emerged from several genome-wide linkage studies. Here, we report a clinical case of autism in a 6-year-old boy with double duplication on 10q11.22q11.23 with ASD (Autism Spectrum Disorder), intellectual disability, developmental delay, hypotonia, gross-motor skills deficit, overgrowth and mild dysmorphic features. In the literature, only five cases of ASD with 10q11.21q11.23 duplication are reported. This is the first extensive clinical description of an ASD subject with 10q11.22q11.23 duplication. Our findings suggest that 10q11.21q11.23 microduplication could represent a copy number variant that predisposes to autism. Full article
(This article belongs to the Special Issue Genetics of Autism Spectrum Disorders: Advances, Translational Impact, and Future Directions)
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13 pages, 1945 KiB  
Case Report
Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review
by Stefania Della Vecchia, Roberta Milone, Romina Cagiano, Sara Calderoni, Elisa Santocchi, Rosa Pasquariello, Roberta Battini and Filippo Muratori
Children 2021, 8(6), 450; https://doi.org/10.3390/children8060450 - 26 May 2021
Cited by 5 | Viewed by 3611
Abstract
Background: Xia–Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 (AHDC1) gene, which is characterised by a wide spectrum of clinical manifestations, including global developmental delay, intellectual disability, structural abnormalities [...] Read more.
Background: Xia–Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 (AHDC1) gene, which is characterised by a wide spectrum of clinical manifestations, including global developmental delay, intellectual disability, structural abnormalities of the brain, global hypotonia, feeding problems, sleep difficulties and apnoea, facial dysmorphisms, and short stature. Methods: Here, we report on a girl patient who shows a peculiar cognitive and behavioural profile including high-functioning autism spectrum disorder (ASD) without intellectual disability and provide information on her developmental trajectory with the aim of expanding knowledge of the XGS clinical spectrum. On the basis of the current clinical case and the literature review, we also attempt to deepen understanding of behavioural and psychiatric manifestations associated with XGS. Results: In addition to the patient we described, a considerable rate of individuals with XGS display autistic symptoms or have been diagnosed with an autistic spectrum disorder. Moreover, the analysis of the few psychopathological profiles of patients with XGS described in the literature shows a frequent presence of aggressive and self-injurious behaviours that could be either an expression of autistic functioning or an additional symptom of the ASD evolution. A careful investigation of the abovementioned symptoms is therefore required, since they could represent a “red flag” for ASD. Full article
(This article belongs to the Special Issue Genetics of Autism Spectrum Disorders: Advances, Translational Impact, and Future Directions)
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7 pages, 614 KiB  
Case Report
Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report
by Ji Yoon Han, Hyun Joo Lee, Young-Mock Lee and Joonhong Park
Children 2021, 8(4), 313; https://doi.org/10.3390/children8040313 - 20 Apr 2021
Cited by 4 | Viewed by 2518
Abstract
The 15q duplication syndrome (dup15q) is due to the presence of at least one additional derived copy of the Prader–Willi syndrome/Angelman syndrome (PWS/AS) critical region that is approximately 5 Mb long within chromosome 15q11.2-q13.1. This report describes distinct roles of the origin of [...] Read more.
The 15q duplication syndrome (dup15q) is due to the presence of at least one additional derived copy of the Prader–Willi syndrome/Angelman syndrome (PWS/AS) critical region that is approximately 5 Mb long within chromosome 15q11.2-q13.1. This report describes distinct roles of the origin of interstitial (int) dup15q underlining the critical importance of maternally active imprinted genes in the contribution to complete penetrance but different phenotypes of neuropsychotic disorders such as schizophrenia (SCZ) and autism spectrum disorder (ASD) in a Korean family. The proband’s mother as a consultant visited our hospital for her offspring’s genetic counseling and segregation analysis. She had two daughters diagnosed as SCZ or ASD and one son diagnosed as ASD. To resolve the potential genetic cause of SCZ and ASD in the proband and her sibling, whole genomic screening of chromosomal rearrangements by array-comparative genomic hybridization (CGH) was performed using SurePrint G3 Human CGH + SNP Microarray 4 × 180 K. Results of the array-CGH analysis revealed an interstitial duplication at 15q11.2-q13.1 (duplication size of 5.4 Mb) in the mother and her three offspring with SCZ or ASD. Our case, together with previous findings of high occurrence of psychotic disorder, suggest that maternally expressed gene product in the critical region of PWS/AS might mediate the risk of neurodevelopmental disorder (ASD) as well as psychotic disorder (SCZ). Multiple cytogenetic and molecular methods are recommended for investigating children with 15q11.2-q13.1 duplication and neuropsychotic disorders. Full article
(This article belongs to the Special Issue Genetics of Autism Spectrum Disorders: Advances, Translational Impact, and Future Directions)
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