{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T15:36:01Z","timestamp":1761060961475,"version":"3.40.5"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,1,18]],"date-time":"2020-01-18T00:00:00Z","timestamp":1579305600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100011773","name":"Conseil r\u00e9gional de Bourgogne-Franche-Comt\u00e9","doi-asserted-by":"publisher","award":["PARI 2016"],"award-info":[{"award-number":["PARI 2016"]}],"id":[{"id":"10.13039\/501100011773","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In 2011,<jats:italic>KIAA1033<\/jats:italic>\/<jats:italic>WASHC4<\/jats:italic>was associated with autosomal recessive intellectual disability (ARID) in a large consanguineous family comprising seven affected individuals with moderate ID and short stature. Since then, no other cases of<jats:italic>KIAA1033<\/jats:italic>variants have been reported. Here we describe three additional patients (from two unrelated families) with syndromic ID due to compound heterozygous<jats:italic>KIAA1033<\/jats:italic>variants ascertained by exome sequencing (ES). Two sisters, aged 4 and 5.5\u2009years, had a stop\u2010gain and a missense variants, each inherited from one parent (p.(Gln442*) and p.(Asp1048Gly)). Both had learning disabilities, macrocephaly, dysmorphic features, skeletal anomalies, and subependymal heterotopic nodules. In addition, the younger sibling had a congenital absence of the right internal carotid and bilateral sensorineural hearing loss. The third patient was aged 34\u2009years and had two missense variants, one inherited from each parent (p.(Lys1079Arg) and p.(His503Arg)). This patient presented with mild ID, short stature, and microcephaly.<jats:italic>KIAA1033<\/jats:italic>encodes a large protein (WASHC4), which is part of the WASH complex. The WASH complex is involved in the regulation of the fission of tubules that serve as transport intermediates during endosome sorting. Another member of the WASH complex, KIAA0196\/WASHC5, has already been implicated in ARID with brain and cardiac malformations, under the designation of 3C or Ritscher\u2010Schinzel syndrome (MIM#20210). ES has proved efficient for finding replications of genes with insufficient data in the literature to be defined as new OMIM genes. We conclude that<jats:italic>KIAA1033<\/jats:italic>is responsible for a heterogeneous ARID phenotype, and additional description will be needed to refine the clinical phenotype.<\/jats:p>","DOI":"10.1002\/ajmg.a.61487","type":"journal-article","created":{"date-parts":[[2020,1,18]],"date-time":"2020-01-18T13:36:14Z","timestamp":1579354574000},"page":"792-797","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Novel<i>KIAA1033<\/i>\/<i>WASHC4<\/i>mutations in three patients with syndromic intellectual disability and a review of the literature"],"prefix":"10.1002","volume":"182","author":[{"given":"Mirna","family":"Assoum","sequence":"first","affiliation":[{"name":"UMR\u2010Inserm 1231 GAD team, G\u00e9n\u00e9tique des Anomalies du d\u00e9veloppement Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9 Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ange\u2010Line","family":"Bruel","sequence":"additional","affiliation":[{"name":"UMR\u2010Inserm 1231 GAD team, G\u00e9n\u00e9tique des Anomalies du d\u00e9veloppement Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9 Dijon France"},{"name":"Laboratoire de G\u00e9n\u00e9tique chromosomique et mol\u00e9culaire, UF Innovation en diagnostic g\u00e9nomique des maladies rares Centre Hospitalier Universitaire de Dijon Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa L.","family":"Crenshaw","sequence":"additional","affiliation":[{"name":"Division of Genetics, Johns Hopkins All Children's Hospital Johns Hopkins University School of Medicine St. Petersburg Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julian","family":"Delanne","sequence":"additional","affiliation":[{"name":"UMR\u2010Inserm 1231 GAD team, G\u00e9n\u00e9tique des Anomalies du d\u00e9veloppement Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9 Dijon France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs de l'Interr\u00e9gion Est Centre Hospitalier Universitaire Dijon Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid M.","family":"Wentzensen","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirsty","family":"McWalter","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin M.","family":"Dent","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Utah Salt Lake City Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Vitobello","sequence":"additional","affiliation":[{"name":"UMR\u2010Inserm 1231 GAD team, G\u00e9n\u00e9tique des Anomalies du d\u00e9veloppement Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9 Dijon France"},{"name":"Laboratoire de G\u00e9n\u00e9tique chromosomique et mol\u00e9culaire, UF Innovation en diagnostic g\u00e9nomique des maladies rares Centre Hospitalier Universitaire de Dijon Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2814-6303","authenticated-orcid":false,"given":"Paul","family":"Kuentz","sequence":"additional","affiliation":[{"name":"UMR\u2010Inserm 1231 GAD team, G\u00e9n\u00e9tique des Anomalies du d\u00e9veloppement Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9 Dijon France"},{"name":"F\u00e9d\u00e9ration Hospitalo\u2010Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (TRANSLAD) Centre Hospitalier Universitaire Dijon Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julien","family":"Thevenon","sequence":"additional","affiliation":[{"name":"UMR\u2010Inserm 1231 GAD team, G\u00e9n\u00e9tique des Anomalies du d\u00e9veloppement Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9 Dijon France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs de l'Interr\u00e9gion Est Centre Hospitalier Universitaire Dijon Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yannis","family":"Duffourd","sequence":"additional","affiliation":[{"name":"UMR\u2010Inserm 1231 GAD team, G\u00e9n\u00e9tique des Anomalies du d\u00e9veloppement Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9 Dijon France"},{"name":"Laboratoire de G\u00e9n\u00e9tique chromosomique et mol\u00e9culaire, UF Innovation en diagnostic g\u00e9nomique des maladies rares Centre Hospitalier Universitaire de Dijon Dijon France"},{"name":"F\u00e9d\u00e9ration Hospitalo\u2010Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (TRANSLAD) Centre Hospitalier Universitaire Dijon Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christel","family":"Thauvin\u2010Robinet","sequence":"additional","affiliation":[{"name":"UMR\u2010Inserm 1231 GAD team, G\u00e9n\u00e9tique des Anomalies du d\u00e9veloppement Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9 Dijon France"},{"name":"Laboratoire de G\u00e9n\u00e9tique chromosomique et mol\u00e9culaire, UF Innovation en diagnostic g\u00e9nomique des maladies rares Centre Hospitalier Universitaire de Dijon Dijon France"},{"name":"F\u00e9d\u00e9ration Hospitalo\u2010Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (TRANSLAD) Centre Hospitalier Universitaire Dijon Dijon France"},{"name":"Centre de R\u00e9f\u00e9rence 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