{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:01Z","timestamp":1786976821540,"version":"build-2736575974"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T00:00:00Z","timestamp":1387411200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      In 2007, 250 families with X\u2010linked intellectual disability (XLID) were screened for mutations in genes on the X\u2010chromosome, and in 4 of these families, mutations in the\n                      <jats:italic>ZDHHC9<\/jats:italic>\n                      gene were identified. The ID was either isolated or associated with a marfanoid habitus. ZDHHC9 encodes a palmitoyl transferase that catalyzes the posttranslational modification of NRAS and HRAS. Since this first description, no additional patient with a\n                      <jats:italic>ZDHHC9<\/jats:italic>\n                      mutation has been reported in the literature. Here, we describe a large family in which we identified a novel pathogenic\n                      <jats:italic>ZDHHC9<\/jats:italic>\n                      nonsense mutation (p.Arg298*) by parallel sequencing of all X\u2010chromosome exons. The mutation cosegregated with the clinical phenotype in this family. An 18\u2010year\u2010old patient and his 40\u2010year\u2010old maternal uncle were evaluated. Clinical examination showed normal growth parameters, lingual fasciculation, limited extension of the elbows and metacarpophalangeal joints, and acrocyanosis. There was neither facial dysmorphism nor marfanoid habitus. Brain MRI detected a dysplastic corpus callosum. Neuropsychological testing showed mild intellectual disability. They both displayed generalized anxiety disorder, and the younger patient also suffered from significant behavior impairment that required attention or treatment. Speech evaluation detected satisfactory spoken language since both were able to provide information and to understand conversations of everyday life. Occupational therapy examination showed impaired visual\u2010spatial and visual\u2010motor performance with poor drawing\/graphic skills. These manifestations are not specific enough to guide\n                      <jats:italic>ZDHHC9<\/jats:italic>\n                      screening in patients with ID, and emphasize the value of next generation sequencing for making a molecular diagnosis and genetic counseling in families with XLID. \u00a9 2013 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36348","type":"journal-article","created":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T15:32:40Z","timestamp":1387467160000},"page":"789-795","source":"Crossref","is-referenced-by-count":35,"title":["Expanding the clinical phenotype of patients with a\n                    <i>ZDHHC9<\/i>\n                    mutation"],"prefix":"10.1002","volume":"164","author":[{"given":"Alice","family":"Masurel\u2010Paulet","sequence":"first","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du d\u00e9veloppement et Syndromes Malformatifs H\u00f4pital d'Enfants, CHU Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera M.","family":"Kalscheuer","sequence":"additional","affiliation":[{"name":"Department of Human Molecular Genetics Max Planck Institute for Molecular Genetics Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Lebrun","sequence":"additional","affiliation":[{"name":"Inserm U1016, Institut Cochin Universit\u00e9 Paris\u2010Descartes, CNRS (UMR 8104) Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Human Molecular Genetics Max Planck Institute for Molecular Genetics Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabienne","family":"Levy","sequence":"additional","affiliation":[{"name":"Centre R\u00e9f\u00e9rent des Troubles du Langage et des Apprentissages H\u00f4pital d'Enfants, CHU Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Thauvin\u2010Robinet","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du d\u00e9veloppement et Syndromes Malformatifs H\u00f4pital d'Enfants, CHU Dijon France"},{"name":"EA 4271 GAD, Facult\u00e9 de M\u00e9decine Universit\u00e9 de Bourgogne Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Darmency\u2010Stamboul","sequence":"additional","affiliation":[{"name":"Centre R\u00e9f\u00e9rent des Troubles du Langage et des Apprentissages H\u00f4pital d'Enfants, CHU Dijon France"},{"name":"Service de P\u00e9diatrie 1 H\u00f4pital d'Enfants, CHU Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salima","family":"El Chehadeh","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du d\u00e9veloppement et Syndromes Malformatifs H\u00f4pital d'Enfants, CHU Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Thevenon","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du d\u00e9veloppement et Syndromes Malformatifs H\u00f4pital d'Enfants, CHU Dijon France"},{"name":"EA 4271 GAD, Facult\u00e9 de M\u00e9decine Universit\u00e9 de Bourgogne Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Chancenotte","sequence":"additional","affiliation":[{"name":"Centre R\u00e9f\u00e9rent des Troubles du Langage et des Apprentissages H\u00f4pital d'Enfants, CHU Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Ruffier\u2010Bourdet","sequence":"additional","affiliation":[{"name":"Centre R\u00e9f\u00e9rent des Troubles du Langage et des Apprentissages H\u00f4pital d'Enfants, CHU Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marl\u00e8ne","family":"Bonnet","sequence":"additional","affiliation":[{"name":"Centre R\u00e9f\u00e9rent des Troubles du Langage et des Apprentissages H\u00f4pital d'Enfants, CHU Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Michel","family":"Pinoit","sequence":"additional","affiliation":[{"name":"Service de P\u00e9dopsychiatrie H\u00f4pital d'Enfants, CHU Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Huet","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie 1 H\u00f4pital d'Enfants, CHU Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Desportes","sequence":"additional","affiliation":[{"name":"Service de Neurologie P\u00e9diatrique CHU Lyon, H\u00f4pital Femme M\u00e8re Enfant Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamel","family":"Chelly","sequence":"additional","affiliation":[{"name":"Inserm U1016, Institut Cochin Universit\u00e9 Paris\u2010Descartes, CNRS (UMR 8104) Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du d\u00e9veloppement et Syndromes Malformatifs H\u00f4pital d'Enfants, CHU Dijon France"},{"name":"EA 4271 GAD, Facult\u00e9 de M\u00e9decine Universit\u00e9 de Bourgogne Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,12,19]]},"reference":[{"key":"e_1_2_7_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 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Le test de l'Alouette","author":"Lefavrais P","year":"1965"},{"key":"e_1_2_7_9_1","volume-title":"Manual for Raven's progressive matrices and vocabulary scales. Section 2: The coloured progressive matrices","author":"Raven J","year":"1998"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/513609"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp071"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1105654"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2006.06.007"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-082509-141640"},{"key":"e_1_2_7_15_1","volume-title":"Vineland adaptive behavior scales: Interview edition, survey form manual","author":"Sparrow SS","year":"1984"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M504113200"},{"key":"e_1_2_7_17_1","unstructured":"Th\u00e9riault\u2010WhalenCM DunnLM.1993. \u00c9chelle de vocabulaire en images Peabody. Adaptation Fran\u00e7aise du Peabody Picture Vocabulary Test. Psycan editions: Richmond Hill Canada."},{"key":"e_1_2_7_18_1","volume-title":"Wechsler adult intelligence scale","author":"Wechsler D","year":"1997"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36348","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36348","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T16:10:10Z","timestamp":1696608610000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36348"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,19]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["10.1002\/ajmg.a.36348"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36348","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,19]]}}}