{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T05:35:00Z","timestamp":1790141700586,"version":"4.0.1"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"2","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,2,1]]},"abstract":"<jats:sec>\n<jats:title>Objective<\/jats:title>\n<jats:p>Recessive <jats:italic>WFS1<\/jats:italic> mutations are known to cause Wolfram syndrome, a very rare systemic disorder. However, they were also found in non-syndromic diabetes in Han Chinese misdiagnosed with type 1 diabetes (T1D), a molecular cause that appears to be considerably more common than the fully expressed syndrome. We aimed to better define the incidence and clinical features of non-syndromic diabetes due to recessive <jats:italic>WFS1<\/jats:italic> mutation.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Design<\/jats:title>\n<jats:p>We analyzed the genotype and phenotype of 320 consecutive incident Chinese pediatric diabetic patients diagnosed from 2016 to 2019 to search for non-syndromic diabetic cases due to recessive <jats:italic>WFS1<\/jats:italic> mutation.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Methods<\/jats:title>\n<jats:p>A cohort of 105 pancreatic autoantibody-negative patients were recruited for exome sequencing. All patients tested positive for pathogenic diallelic <jats:italic>WFS1<\/jats:italic> mutations were examined for phenotypic features (fundoscopy, audiogram, and urine density).<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>We found three cases of non-syndromic diabetes due to recessive <jats:italic>WFS1<\/jats:italic> mutations (incidence\u2009=\u20090.94% (95% CI: 0.25\u20132.7%)). All three cases only had mild diabetes when diagnosed. All patients had well-conserved fasting C-peptide when diagnosed but one of them progressed to T1D-like insulin deficiency. In addition, we found a fourth case with previously undetected features of Wolfram syndrome.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Conclusions<\/jats:title>\n<jats:p>Non-syndromic diabetes due to <jats:italic>WFS1<\/jats:italic> mutation may be common among Chinese pediatric patients with diabetes. It is important to differentiate it from other maturity-onset diabetes in the young subtypes with similar phenotype by molecular diagnosis because of different prognosis and, potentially, therapy.<\/jats:p>\n<\/jats:sec>","DOI":"10.1530\/eje-21-0097","type":"journal-article","created":{"date-parts":[[2021,11,18]],"date-time":"2021-11-18T13:44:14Z","timestamp":1637243054000},"page":"163-170","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-7","source":"Crossref","is-referenced-by-count":7,"title":["Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations"],"prefix":"10.1093","volume":"186","author":[{"given":"Mingqiang","family":"Zhu","sequence":"first","affiliation":[{"name":"1Department of Endocrinology, The Children\u2019s Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children\u2019s Regional Medical Center, Hangzhou, Zhejiang province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yangxi","family":"Li","sequence":"additional","affiliation":[{"name":"2Research Institute of McGill University Health Centre, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guanping","family":"Dong","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, The Children\u2019s Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children\u2019s Regional Medical Center, Hangzhou, Zhejiang province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuefeng","family":"Chen","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, The Children\u2019s Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children\u2019s Regional Medical Center, Hangzhou, Zhejiang province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ke","family":"Huang","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, The Children\u2019s Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children\u2019s Regional Medical Center, Hangzhou, Zhejiang province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Wu","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, The Children\u2019s Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children\u2019s Regional Medical Center, Hangzhou, Zhejiang province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yangli","family":"Dai","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, The Children\u2019s Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children\u2019s Regional Medical Center, Hangzhou, Zhejiang province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Zhang","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, The Children\u2019s Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children\u2019s Regional Medical Center, Hangzhou, Zhejiang province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hu","family":"Lin","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, The Children\u2019s Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children\u2019s Regional Medical Center, Hangzhou, Zhejiang province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sihua","family":"Wang","sequence":"additional","affiliation":[{"name":"3Zhejiang MaiDa Gene Tech Co. Ltd, Zhoushan, Zhejiang Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantin","family":"Polychronakos","sequence":"additional","affiliation":[{"name":"2Research Institute of McGill University Health Centre, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junfen","family":"Fu","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, The Children\u2019s Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children\u2019s Regional Medical Center, Hangzhou, Zhejiang province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/186\/2\/EJE-21-0097.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/downloadpdf\/journals\/eje\/186\/2\/EJE-21-0097.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:16:21Z","timestamp":1676391381000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/186\/2\/163\/6853006"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,1]]},"references-count":0,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.1530\/eje-21-0097","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,1]]}}}