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RADX Gene Variant May Predispose to Familial Asperger Syndrome

Asperger syndrome (AS) is a pervasive developmental disorder characterized by general impairment in socialization, stereotypical behavior, defective adaptation to the social context usually without intellectual disability, and some high functioning areas related to memory and mathematics. Clinical c...

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Autores principales: Azzarà, Alessia, Rumore, Roberto, Brugnoletti, Fulvia, Tabolacci, Elisabetta, Bottillo, Irene, Sangiorgi, Eugenio, Gurrieri, Fiorella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957148/
https://www.ncbi.nlm.nih.gov/pubmed/36833228
http://dx.doi.org/10.3390/genes14020301
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author Azzarà, Alessia
Rumore, Roberto
Brugnoletti, Fulvia
Tabolacci, Elisabetta
Bottillo, Irene
Sangiorgi, Eugenio
Gurrieri, Fiorella
author_facet Azzarà, Alessia
Rumore, Roberto
Brugnoletti, Fulvia
Tabolacci, Elisabetta
Bottillo, Irene
Sangiorgi, Eugenio
Gurrieri, Fiorella
author_sort Azzarà, Alessia
collection PubMed
description Asperger syndrome (AS) is a pervasive developmental disorder characterized by general impairment in socialization, stereotypical behavior, defective adaptation to the social context usually without intellectual disability, and some high functioning areas related to memory and mathematics. Clinical criteria are not well defined and the etiology is heterogeneous and mostly unknown. Like in typical autism spectrum disorders (ASD), the genetic background plays a crucial role in AS, and often an almost mendelian segregation can be observed in some families. We performed a whole exome sequencing (WES) in three relatives of a family with vertical transmission of AS-ASD to identify variants in candidate genes segregating with the phenotype. Variant p.(Cys834Ser) in the RADX gene was the only one segregating among all the affected family members. This gene encodes a single-strand DNA binding factor, which mediates the recruitment of genome maintenance proteins to sites of replication stress. Replication stress and genome instability have been reported recently in neural progenitor cells derived from ASD patients, leading to a disruption of long neural genes involved in cell–cell adhesion and migration. We propose RADX as a new gene that when mutated could represent a predisposing factor to AS-ASD.
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spelling pubmed-99571482023-02-25 RADX Gene Variant May Predispose to Familial Asperger Syndrome Azzarà, Alessia Rumore, Roberto Brugnoletti, Fulvia Tabolacci, Elisabetta Bottillo, Irene Sangiorgi, Eugenio Gurrieri, Fiorella Genes (Basel) Communication Asperger syndrome (AS) is a pervasive developmental disorder characterized by general impairment in socialization, stereotypical behavior, defective adaptation to the social context usually without intellectual disability, and some high functioning areas related to memory and mathematics. Clinical criteria are not well defined and the etiology is heterogeneous and mostly unknown. Like in typical autism spectrum disorders (ASD), the genetic background plays a crucial role in AS, and often an almost mendelian segregation can be observed in some families. We performed a whole exome sequencing (WES) in three relatives of a family with vertical transmission of AS-ASD to identify variants in candidate genes segregating with the phenotype. Variant p.(Cys834Ser) in the RADX gene was the only one segregating among all the affected family members. This gene encodes a single-strand DNA binding factor, which mediates the recruitment of genome maintenance proteins to sites of replication stress. Replication stress and genome instability have been reported recently in neural progenitor cells derived from ASD patients, leading to a disruption of long neural genes involved in cell–cell adhesion and migration. We propose RADX as a new gene that when mutated could represent a predisposing factor to AS-ASD. MDPI 2023-01-23 /pmc/articles/PMC9957148/ /pubmed/36833228 http://dx.doi.org/10.3390/genes14020301 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Communication
Azzarà, Alessia
Rumore, Roberto
Brugnoletti, Fulvia
Tabolacci, Elisabetta
Bottillo, Irene
Sangiorgi, Eugenio
Gurrieri, Fiorella
RADX Gene Variant May Predispose to Familial Asperger Syndrome
title RADX Gene Variant May Predispose to Familial Asperger Syndrome
title_full RADX Gene Variant May Predispose to Familial Asperger Syndrome
title_fullStr RADX Gene Variant May Predispose to Familial Asperger Syndrome
title_full_unstemmed RADX Gene Variant May Predispose to Familial Asperger Syndrome
title_short RADX Gene Variant May Predispose to Familial Asperger Syndrome
title_sort radx gene variant may predispose to familial asperger syndrome
topic Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957148/
https://www.ncbi.nlm.nih.gov/pubmed/36833228
http://dx.doi.org/10.3390/genes14020301
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