{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:01:07Z","timestamp":1791475267904,"version":"4.3.4"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,21]],"date-time":"2017-12-21T00:00:00Z","timestamp":1513814400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p>Rare de novo mutations represent a significant cause of idiopathic developmental delay (DD). The use of next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>) has boosted the identification of de novo mutations in an increasing number of novel genes. Here we present 3 unrelated children with de novo loss\u2010of\u2010function (<jats:styled-content style=\"fixed-case\">LoF<\/jats:styled-content>) mutations in <jats:italic><jats:styled-content style=\"fixed-case\">QRICH1<\/jats:styled-content><\/jats:italic>, diagnosed through trio\u2010based exome sequencing. <jats:italic><jats:styled-content style=\"fixed-case\">QRICH1<\/jats:styled-content><\/jats:italic> encodes the glutamine\u2010rich protein 1, which contains 1 caspase activation recruitment domain and is likely to be involved in apoptosis and inflammation. All 3 children had speech delay, learning difficulties, a prominent nose and a thin upper lip. In addition, 2 of them had mildly raised creatine kinase (<jats:styled-content style=\"fixed-case\">CK<\/jats:styled-content>) and 1 of them had autism. Despite their small number, the patients had a relatively consistent pattern of clinical features suggesting the presence of a <jats:italic><jats:styled-content style=\"fixed-case\">QRICH1<\/jats:styled-content><\/jats:italic>\u2010associated phenotype. <jats:styled-content style=\"fixed-case\">LoF<\/jats:styled-content> mutations in <jats:italic><jats:styled-content style=\"fixed-case\">QRICH1<\/jats:styled-content><\/jats:italic> are suggested as a novel cause of DD.<\/jats:p>","DOI":"10.1111\/cge.13096","type":"journal-article","created":{"date-parts":[[2017,7,10]],"date-time":"2017-07-10T13:48:00Z","timestamp":1499694480000},"page":"286-292","source":"Crossref","is-referenced-by-count":19,"title":["Phenotypic spectrum associated with de novo mutations in <i><scp>QRICH1<\/scp><\/i> gene"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8393-4444","authenticated-orcid":false,"given":"A.","family":"Ververi","sequence":"first","affiliation":[{"name":"North West Thames Regional Genetics Service London North West Healthcare NHS Trust  Harrow UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Splitt","sequence":"additional","affiliation":[{"name":"Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics International Centre for Life  Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. C. S.","family":"Dean","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Aberdeen Royal Infirmary  Aberdeen UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"DDD Study","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. F.","family":"Brady","sequence":"additional","affiliation":[{"name":"North West Thames Regional Genetics Service London North West Healthcare NHS Trust  Harrow UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,12,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3241"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw1104"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature21062"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13772"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(98)01208-0"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1042\/BST0381615"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1418631112"},{"key":"e_1_2_8_10_1","unstructured":"CaulfieldM DaviesJ DennysM ElbahL FowlerT HillS HubbardT JostinsL MaltbyN Mahon\u2010PearsonJ McVeanG Nevin\u2010RidleyK ParkerM ParryV RendonA RileyL TurnbullC WoodsK. 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