{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:01:24Z","timestamp":1791475284221,"version":"4.3.4"},"reference-count":15,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,6,18]],"date-time":"2023-06-18T00:00:00Z","timestamp":1687046400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>QRICH1 encodes the glutamine\u2010rich protein 1, which contains one caspase activation recruitment domain and is likely to be involved in apoptosis and inflammation. However, the function of the QRICH1 gene was largely unknown. Recently, several studies have reported de novo variants in <jats:italic>QRICH1<\/jats:italic>, and the variants have been associated with Ververi\u2010Brady syndrome characterized by developmental delay, nonspecific facial dysmorphism, and hypotonia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>Whole exome sequencing, clinical examinations, and functional experiments were performed to identify the etiology of our patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Here, we added another patient with severe growth retardation, atrial septal defect, and slurred speech. Whole exome sequencing identified a novel truncation variant in the <jats:italic>QRICH1<\/jats:italic> gene (MN_017730.3: c.1788dupC, p.Tyr597Leufs*9). Furthermore, the functional experiments confirmed the effect of genetic variation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings expand the <jats:italic>QRICH1<\/jats:italic> variant spectrum in developmental disorders and provide evidence for the application of whole exome sequencing in Ververi\u2010Brady syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2227","type":"journal-article","created":{"date-parts":[[2023,6,18]],"date-time":"2023-06-18T12:54:16Z","timestamp":1687092856000},"source":"Crossref","is-referenced-by-count":6,"title":["A novel variant in the <scp><i>QRICH1<\/i><\/scp> gene was identified in a patient with severe developmental delay"],"prefix":"10.1002","volume":"11","author":[{"given":"Dong","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, affiliated Dongguan Hospital Southern Medical University (Dongguan people's Hospital)  Dongguan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6721-5431","authenticated-orcid":false,"given":"Jin","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolism, Key Laboratory of Birth Defects and Related Diseases of Women and Children West China Second Hospital of Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,6,18]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62184"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13853"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.12.015"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201649"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1759-8753-2-12"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24308"},{"issue":"3","key":"e_1_2_11_8_1","first-page":"173","article-title":"Growth standardized values and curves based on weight, length\/height and head circumference for Chinese children under 7\u2009years of age","volume":"47","author":"Li H.","year":"2009","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13457"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms11103"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20253"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13096"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.abb6896"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2227","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,12]],"date-time":"2023-08-12T07:10:49Z","timestamp":1691824249000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2227"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,18]]},"references-count":15,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["10.1002\/mgg3.2227"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2227","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,18]]},"article-number":"e2227"}}