{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T09:12:52Z","timestamp":1790241172679,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:00:00Z","timestamp":1761004800000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>This case report describes a 20\u2010year\u2010old female MODY5 patient. Genetic testing revealed a heterozygous missense mutation c.452C&gt;G (p.R151G) in HNF1\u03b2, identical to the mutation carried by her diabetic mother. This case underscores the importance of genetic testing in young\u2010onset diabetes with renal anomalies, facilitating personalized care and family risk assessment.<\/jats:p>","DOI":"10.1002\/ccr3.71307","type":"journal-article","created":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T05:00:06Z","timestamp":1761109206000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>HNF1\u03b2<\/scp>\n                    Gene Mutation Leading to a\n                    <scp>MODY5<\/scp>\n                    With Renal Dysplasia: A Case Report"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4089-8009","authenticated-orcid":false,"given":"Xingfa","family":"Han","sequence":"first","affiliation":[{"name":"Endocrinology Department, Suzhou Hospital, Affiliated Hospital of Medical School Nanjing University  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueting","family":"Qiu","sequence":"additional","affiliation":[{"name":"Endocrinology Department, Suzhou Hospital, Affiliated Hospital of Medical School Nanjing University  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8558-4217","authenticated-orcid":false,"given":"Rong","family":"Jiang","sequence":"additional","affiliation":[{"name":"Endocrinology Department, Suzhou Hospital, Affiliated Hospital of Medical School Nanjing University  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nian","family":"Wang","sequence":"additional","affiliation":[{"name":"Endocrinology Department, Suzhou Hospital, Affiliated Hospital of Medical School Nanjing University  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1940-289X","authenticated-orcid":false,"given":"Zheng","family":"Li","sequence":"additional","affiliation":[{"name":"Endocrinology Department, Suzhou Hospital, Affiliated Hospital of Medical School Nanjing University  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhimin","family":"Ma","sequence":"additional","affiliation":[{"name":"Endocrinology Department, Suzhou Hospital, Affiliated Hospital of Medical School Nanjing University  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,10,21]]},"reference":[{"issue":"8","key":"e_1_2_11_2_1","first-page":"1063","article-title":"A High Prevalence of Hepatocyte Nuclear Factor\u20101alpha (HNF\u20101alpha\/MODY3) Mutations in Diabetic Patients With Renal Cysts and Dysplasia","volume":"46","author":"Ellard S.","year":"2003","journal-title":"Diabetologia"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1297-384"},{"issue":"3","key":"e_1_2_11_4_1","first-page":"205","article-title":"Young\u2010Onset Diabetes in Patients With Mutations in the Hepatocyte Nuclear Factor\u20101beta Gene (HNF1B\/MODY5)","volume":"22","author":"Bingham C.","year":"2005","journal-title":"Diabetic Medicine"},{"issue":"1","key":"e_1_2_11_5_1","first-page":"216","article-title":"Hepatocyte Nuclear Factor\u20101\u03b2 (HNF1B) Gene Mutations: A Clinical, Biochemical, and Molecular Genetic Study of 15 Indian Families With Maturity Onset Diabetes of the Young Type 5 (MODY5)","volume":"13","author":"Faghihi M.","year":"2019","journal-title":"Diabetes & Metabolic Syndrome"},{"issue":"10","key":"e_1_2_11_6_1","first-page":"1745","article-title":"Clinical Implications of Genetic Diabetes Diagnosis in the MODY Era","volume":"62","author":"Flanagan S. E.","year":"2019","journal-title":"Diabetologia"},{"issue":"6","key":"e_1_2_11_7_1","first-page":"1193","article-title":"Renal Hypodysplasia and Diabetes Insipidus in a Patient With a Novel HNF1B Mutation","volume":"22","author":"Stanescu H. C.","year":"2011","journal-title":"Journal of the American Society of Nephrology"},{"issue":"5","key":"e_1_2_11_8_1","first-page":"1079","article-title":"Mutations in the Hepatocyte Nuclear Factor\u20101beta Gene Are Associated With Familial Hypoplastic Kidneys and Maturity\u2010Onset Diabetes of the Young","volume":"68","author":"Bingham C.","year":"2001","journal-title":"American Journal of Human Genetics"},{"issue":"1","key":"e_1_2_11_9_1","article-title":"Renal Anomalies Associated With Mutations in the Hepatocyte Nuclear Factor 1beta Gene (HNF1B) in Children and Adults","volume":"43","author":"Shaw\u2010Smith C.","year":"2006","journal-title":"Journal of Medical Genetics"},{"issue":"10","key":"e_1_2_11_10_1","first-page":"455","article-title":"The Molecular Basis of Maturity Onset Diabetes of the Young\u2013MODY","volume":"12","author":"Edghill E. L.","year":"2006","journal-title":"Trends in Molecular Medicine"},{"issue":"1","key":"e_1_2_11_11_1","first-page":"50","article-title":"Implementation of a MODY Testing Service Identifies a High Unmet Need for Genetic Testing in Young\u2010Onset Diabetes","volume":"35","author":"Colclough K.","year":"2018","journal-title":"Diabetic Medicine"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.71307","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.71307","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.71307","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T08:53:23Z","timestamp":1790240003000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.71307"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10]]},"references-count":10,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1002\/ccr3.71307"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.71307","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10]]},"assertion":[{"value":"2025-06-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-07","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e71307"}}