{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T18:32:10Z","timestamp":1787509930321,"version":"build-2736575974"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,12,23]],"date-time":"2022-12-23T00:00:00Z","timestamp":1671753600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The phenotypic repercussion of\n                    <jats:italic>ZDHHC15<\/jats:italic>\n                    haploinsufficiency is not well\u2010known. This gene was initially suggested as a candidate for X\u2010linked mental retardation, but such an association was later questioned. We studied a multiplex family with three members with autism spectrum disorder (ASD) by array CGH, karyotype, exome sequencing and X\u2010chromosome inactivation patterns. Medical history interviews, cognitive and physical examinations, and sensory profiling were also assessed. The three family members with ASD (with normal cognitive abilities and an abnormal sensory profile) were the only carriers of a 1.7\u00a0Mb deletion in the long arm of chromosome X, involving:\n                    <jats:italic>ZDHHC15<\/jats:italic>\n                    ,\n                    <jats:italic>MAGEE2<\/jats:italic>\n                    ,\n                    <jats:italic>PBDC1<\/jats:italic>\n                    ,\n                    <jats:italic>MAGEE1<\/jats:italic>\n                    ,\n                    <jats:italic>MIR384<\/jats:italic>\n                    and\n                    <jats:italic>MIR325<\/jats:italic>\n                    . The normal chromosome X was preferentially inactivated in female carriers, and the whole exome sequencing of an affected family member did not reveal any additional genetic variant that could explain the phenotype. Thus, in the present family, ASD segregates with a deletion on chromosome X that includes\n                    <jats:italic>ZDHHC15<\/jats:italic>\n                    . Considering our results together with gene data (regarding function, expression, conservation and animal\/cellular models),\n                    <jats:italic>ZDHHC15<\/jats:italic>\n                    is a candidate gene for ASD. Emerging evidence also suggests that this gene could be associated with other neurodevelopmental disorders, with incomplete penetrance and variable expressivity.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63099","type":"journal-article","created":{"date-parts":[[2022,12,24]],"date-time":"2022-12-24T02:39:20Z","timestamp":1671849560000},"page":"941-947","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["<scp>\n                      <i>ZDHHC15<\/i>\n                    <\/scp>\n                    as a candidate gene for autism spectrum disorder"],"prefix":"10.1002","volume":"191","author":[{"given":"Dolors","family":"Casellas\u2010Vidal","sequence":"first","affiliation":[{"name":"Servei de Pediatria Hospital Universitari Doctor Josep Trueta  Girona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Mademont\u2010Soler","sequence":"additional","affiliation":[{"name":"\u00c0rea de Gen\u00e8tica Cl\u00ednica i Consell Gen\u00e8tic, Laboratori Cl\u00ednic Territorial Girona Institut Catal\u00e0 de la Salut  Girona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joana","family":"S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Centre de Salut Mental Infantil i Juvenil Institut d'Assist\u00e8ncia Sanit\u00e0ria  Girona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Plaja","sequence":"additional","affiliation":[{"name":"Unitat d'Arrays, Departament de Gen\u00e8tica Hospital Universitari Vall d'Hebron  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neus","family":"Castells","sequence":"additional","affiliation":[{"name":"Unitat d'Arrays, Departament de Gen\u00e8tica Hospital Universitari Vall d'Hebron  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Cam\u00f3s","sequence":"additional","affiliation":[{"name":"Servei de Pediatria Hospital Universitari Doctor Josep Trueta  Girona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Nieto\u2010Moragas","sequence":"additional","affiliation":[{"name":"\u00c0rea de Gen\u00e8tica Cl\u00ednica i Consell Gen\u00e8tic, Laboratori Cl\u00ednic Territorial Girona Institut Catal\u00e0 de la Salut  Girona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"del Mar Garc\u00eda","sequence":"additional","affiliation":[{"name":"Servei de Pediatria Hospital Universitari Doctor Josep Trueta  Girona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celia","family":"Rodriguez\u2010Solera","sequence":"additional","affiliation":[{"name":"Servicio de Diagn\u00f3stico Gen\u00e9tico NIMGenetics  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Rivera","sequence":"additional","affiliation":[{"name":"Centre de Salut Mental Infantil i Juvenil Institut d'Assist\u00e8ncia Sanit\u00e0ria  Girona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan","family":"Brunet","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Program, Catalan Institute of Oncology Hospital Universitari Doctor Josep Trueta, IDIBGI  Girona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"\u00c1lvarez","sequence":"additional","affiliation":[{"name":"Servicio de Diagn\u00f3stico Gen\u00e9tico NIMGenetics  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josep","family":"Perapoch","sequence":"additional","affiliation":[{"name":"Servei de Pediatria Hospital Universitari Doctor Josep Trueta  Girona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Queralt","sequence":"additional","affiliation":[{"name":"\u00c0rea de Gen\u00e8tica Cl\u00ednica i Consell Gen\u00e8tic, Laboratori Cl\u00ednic Territorial Girona Institut Catal\u00e0 de la Salut  Girona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Ob\u00f3n","sequence":"additional","affiliation":[{"name":"\u00c0rea de Gen\u00e8tica Cl\u00ednica i Consell Gen\u00e8tic, Laboratori Cl\u00ednic Territorial Girona Institut Catal\u00e0 de la Salut  Girona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,23]]},"reference":[{"issue":"6","key":"e_1_2_10_2_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen R. 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