{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T14:09:53Z","timestamp":1787234993672,"version":"build-2736575974"},"reference-count":38,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,8,5]],"date-time":"2021-08-05T00:00:00Z","timestamp":1628121600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012659","name":"Foundation for Innovative Research Groups of the National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81900719, 81800704"],"award-info":[{"award-number":["81900719, 81800704"]}],"id":[{"id":"10.13039\/501100012659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010849","name":"Health and Family Planning Commission of Wuhan Municipality","doi-asserted-by":"publisher","award":["WX18M02"],"award-info":[{"award-number":["WX18M02"]}],"id":[{"id":"10.13039\/501100010849","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>To determine the pathogenic gene and explore the clinical characteristics of maturity-onset diabetes of the young type 2 (MODY2) pedigree caused by a mutation in the glucokinase (<jats:italic>GCK<\/jats:italic>) gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Using whole-exome sequencing (WES), the pathogenic gene was detected in the proband\u2014a 20-year-old young man who was accidentally found with hyperglycemia, no ketosis tendency, and a family history of diabetes. The family members of the proband were examined. In addition, relevant clinical data were obtained and genomic DNA from peripheral blood was obtained. Pathologic variants of the candidate were verified by Sanger sequencing technology, and cosegregation tests were conducted among other family members and non-related healthy controls. After adjusting the treatment plan based on the results of genetic testing, changes in biochemical parameters, such as blood glucose levels and HAblc levels were determined.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In the <jats:italic>GCK<\/jats:italic> gene (NM_000162) in exon 9, a heterozygous missense mutation c.1160C &amp;gt; T (p.Ala387Val) was found in the proband, his father, uncle, and grandmother. Thus mutation, which was found to co-segregate with diabetes, was the first discovery of such a mutation in the Asian population. After stopping hypoglycemic drug treatment, good glycemic\u00a0control\u00a0was achieved with diet and exercise therapy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>GCK<\/jats:italic> gene mutation c.1160C &amp;gt; T (p.Ala387Val) is the pathogenic gene in the <jats:italic>GCK-MODY<\/jats:italic> pedigree. Formulating an optimized and personalized treatment strategy can reduce unnecessary excessive medical treatment and adverse drug reactions, and maintain a good HbA1c compliance rate<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2021.700342","type":"journal-article","created":{"date-parts":[[2021,8,5]],"date-time":"2021-08-05T05:22:47Z","timestamp":1628140967000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Precision Therapy for a Chinese Family With Maturity-Onset Diabetes of the 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