{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T14:56:14Z","timestamp":1772117774338,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,4,21]],"date-time":"2018-04-21T00:00:00Z","timestamp":1524268800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Health Innovation Challenge Fund","award":["HICF-1009-003"],"award-info":[{"award-number":["HICF-1009-003"]}]},{"name":"Wellcome Trust Sanger Institute","award":["WT098051"],"award-info":[{"award-number":["WT098051"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,5]]},"abstract":"\n Pathogenic variants in Zinc Finger DHHC\u2010Type Containing 9 (\n ZDHHC9<\/jats:italic>\n ) gene have been identified as the cause of X\u2010linked intellectual disability (XLID) in a small number of families. There are a total of 11 reported pathogenic variants in\n ZDHHC9<\/jats:italic>\n in the literature. The majority of reported variants are familial point mutations. There is one report of XLID associated with a de novo mutation in\n ZDHHC9<\/jats:italic>\n , and one family with intragenic deletion within\n ZDHHC9<\/jats:italic>\n detected by array CGH. Although initial reports of families with\n ZDHHC9<\/jats:italic>\n pathogenic variants suggested a nonsyndromic XLID, more recent reports suggest a syndromic phenotype with facial dysmorphism. Here we report four patients with pathogenic variants in\n ZDHHC9<\/jats:italic>\n , a family with two siblings and their maternal uncle who presented with XLID due to intragenic deletion of\n ZDHHC9<\/jats:italic>\n detected by array CGH and an 11\u2010year\u2010old boy with a de novo pathogenic missense variant in\n ZDHHC9<\/jats:italic>\n , which is the first recurrent\n ZDHHC9<\/jats:italic>\n mutation. Our patients had some distinctive facial features in common, including elongated and down\u2010slanting palpebral fissures and high hairline. Marfanoid habitus and seizures that have been previously reported in association with pathogenic variants in\n ZDHHC9<\/jats:italic>\n were absent in our cohort. Clinical information on patients with\n ZDHHC9\u2010<\/jats:italic>\n associated XLID is very scarce. New reports of families with detailed clinical description will add to the existing knowledge and help understand the condition better.\n <\/jats:p>","DOI":"10.1002\/ajmg.a.38683","type":"journal-article","created":{"date-parts":[[2018,4,22]],"date-time":"2018-04-22T00:10:11Z","timestamp":1524355811000},"page":"1238-1244","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Expanding the molecular basis and phenotypic spectrum of\n ZDHHC9<\/i>\n \u2010associated X\u2010linked intellectual disability"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9602-4063","authenticated-orcid":false,"given":"Schaida","family":"Schirwani","sequence":"first","affiliation":[{"name":"Yorkshire Regional Genetics Service, Chapel Allerton Hospital Leeds Teaching Hospitals NHS Trust Leeds United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma","family":"Wakeling","sequence":"additional","affiliation":[{"name":"North West Thames Regional Genetics Service London North West University Hospitals NHS Trust Harrow United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kath","family":"Smith","sequence":"additional","affiliation":[{"name":"Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Sheffield Yorkshire United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"DDD Study","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1488-3695","authenticated-orcid":false,"given":"Meena","family":"Balasubramanian","sequence":"additional","affiliation":[{"name":"Academic Unit of Child Health, Department of Oncology & Metabolism University of Sheffield United Kingdom"},{"name":"Sheffield Clinical Genetics Service Sheffield Children's NHS Foundation Trust Sheffield United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,4,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.196"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nicl.2016.07.016"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/cercor\/bhx027"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21360"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22901"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.07.002"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2014.193"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36348"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M114.567420"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/513609"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.148"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.367"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.5"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(14)61705-0"}],"container-title":["American 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