{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T23:00:36Z","timestamp":1787785236088,"version":"build-2784847793"},"reference-count":53,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,9,22]],"date-time":"2023-09-22T00:00:00Z","timestamp":1695340800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100021171","name":"Basic and Applied Basic Research Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2021A1515110995"],"award-info":[{"award-number":["2021A1515110995"]}],"id":[{"id":"10.13039\/501100021171","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82200933"],"award-info":[{"award-number":["82200933"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Diabetes Invest"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aims<\/jats:title><jats:p><jats:italic>HNF1B<\/jats:italic> syndrome is caused by defects in the hepatocyte nuclear factor\u20091B (<jats:italic>HNF1B<\/jats:italic>) gene, which leads to maturity\u2010onset diabetes of the young type\u20095 and congenital organ malformations. This study aimed to identify a gene defect in a patient presenting with diabetes and severe diarrhea, while also analyzing the prevalence of hypomagnesemia and its correlation with the <jats:italic>HNF1B<\/jats:italic> genotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>Whole exome sequencing was used to identify responsible point mutations and small indels in the proband and their family members. Multiplex ligation\u2010dependent probe amplification was carried out to identify <jats:italic>HNF1B<\/jats:italic> deletions. Furthermore, an analysis of published data on 539 cumulative <jats:italic>HNF1B<\/jats:italic> cases, from 29 literature sources, was carried out to determine the correlation between the <jats:italic>HNF1B<\/jats:italic> genotype and the phenotype of serum magnesium status.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Using multiplex ligation\u2010dependent probe amplification, we identified a de novo heterozygous <jats:italic>HNF1B<\/jats:italic> deletion in the patient, who showed dorsal pancreas agenesis and multiple kidney cysts, as detected by magnetic resonance imaging. Magnesium supplementation effectively alleviated the symptoms of diarrhea. Hypomagnesemia was highly prevalent in 192 out of 354 (54.2%) patients with <jats:italic>HNF1B<\/jats:italic> syndrome. Compared with patients with intragenic mutations, those with <jats:italic>HNF1B<\/jats:italic> deletions were more likely to suffer from hypomagnesemia, with an odds ratio of 3.1 (95% confidence interval 1.8\u20135.4).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Hypomagnesemia is highly prevalent in individuals with <jats:italic>HNF1B<\/jats:italic> syndrome, and those with <jats:italic>HNF1B<\/jats:italic> deletion are more susceptible to developing hypomagnesemia compared with those with intragenic mutations. The genotype\u2013phenotype associations in <jats:italic>HNF1B<\/jats:italic> syndrome have significant implications for endocrinologists in terms of genotype detection, treatment decisions and prognosis assessment.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdi.14084","type":"journal-article","created":{"date-parts":[[2023,9,22]],"date-time":"2023-09-22T11:40:05Z","timestamp":1695382805000},"page":"121-130","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Hepatocyte nuclear factor\u20091B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia"],"prefix":"10.1111","volume":"15","author":[{"given":"Yanfei","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism, Nanfang Hospital Southern Medical University  Guangzhou China"},{"name":"Department of Endocrinology The First People's Hospital of Foshan  Foshan China"},{"name":"National Clinical 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