{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:48:50Z","timestamp":1760147330109,"version":"build-2065373602"},"reference-count":20,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,1,23]],"date-time":"2023-01-23T00:00:00Z","timestamp":1674432000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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\u2013cell adhesion and migration. We propose RADX as a new gene that when mutated could represent a predisposing factor to AS-ASD.<\/jats:p>","DOI":"10.3390\/genes14020301","type":"journal-article","created":{"date-parts":[[2023,1,23]],"date-time":"2023-01-23T05:46:11Z","timestamp":1674452771000},"page":"301","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["RADX Gene Variant May Predispose to Familial Asperger Syndrome"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3639-6687","authenticated-orcid":false,"given":"Alessia","family":"Azzar\u00e0","sequence":"first","affiliation":[{"name":"Research Unit of Medical Genetics, Department of Medicine and Surgery, Universit\u00e0 Campus Bio-Medico di Roma, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Rumore","sequence":"additional","affiliation":[{"name":"Istituto di Medicina Genomica, Fondazione Policlinico Universitario A. Gemelli IRCCS\u2014Universit\u00e0 Cattolica del Sacro Cuore, 00168 Roma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fulvia","family":"Brugnoletti","sequence":"additional","affiliation":[{"name":"Oncogenetics Unit, Service of Oncology, University Hospital of Geneva, 1205 Geneva, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4707-2242","authenticated-orcid":false,"given":"Elisabetta","family":"Tabolacci","sequence":"additional","affiliation":[{"name":"Istituto di Medicina Genomica, Fondazione Policlinico Universitario A. Gemelli IRCCS\u2014Universit\u00e0 Cattolica del Sacro Cuore, 00168 Roma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Bottillo","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00152 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9079-9175","authenticated-orcid":false,"given":"Eugenio","family":"Sangiorgi","sequence":"additional","affiliation":[{"name":"Istituto di Medicina Genomica, Fondazione Policlinico Universitario A. Gemelli IRCCS\u2014Universit\u00e0 Cattolica del Sacro Cuore, 00168 Roma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fiorella","family":"Gurrieri","sequence":"additional","affiliation":[{"name":"Research Unit of Medical Genetics, Department of Medicine and Surgery, Universit\u00e0 Campus Bio-Medico di Roma, 00128 Rome, Italy"},{"name":"Operative Research Unit of Medical Genetics, Fondazione Policlinico Universitario Campus Bio-Medico, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1016\/S0140-6736(18)31129-2","article-title":"Autism Spectrum Disorder","volume":"392","author":"Lord","year":"2018","journal-title":"Lancet"},{"key":"ref_2","first-page":"217","article-title":"Autistic Disturbances of Affective Contact","volume":"2","author":"Kanner","year":"1943","journal-title":"Nerv. 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