{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T12:43:03Z","timestamp":1792586583272,"version":"4.5.0"},"reference-count":51,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T00:00:00Z","timestamp":1792540800000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["30760087"],"award-info":[{"award-number":["30760087"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Type 2 diabetes mellitus (T2DM) exhibits strong familial aggregation. This study aimed to identify potential pathogenic genes and mutation sites in a Chinese pedigree with a high prevalence of T2DM.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A multigenerational family with 20 members, including 5 diagnosed with T2DM, was enrolled. The proband was a second\u2010generation female with a 10\u2010year disease history. Peripheral blood was collected, genomic DNA was extracted from blood cells, and whole exome sequencing was performed. Bioinformatic analysis, including KEGG pathway mapping, was used to screen candidate pathogenic variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Sequencing revealed 485 DNA variants, which were filtered to 16 high\u2010priority mutations (15 SNPs and 1 Indel). Through literature review and functional pathway analysis, two heterozygous mutations\u2014EPHX3 rs760409070 [c.778G&gt;A, p.Glu260Lys] and FHOD1 rs142023201 [c.1493A&gt;G, p.Asn498Ser]\u2014were identified as candidate pathogenic variants. These two mutations were consistently present in all affected family members.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The EPHX3 rs760409070 and FHOD1 rs142023201 mutations are likely contributing genetic factors to T2DM in this pedigree. Based on bioinformatic analysis, we hypothesize that these mutations may promote diabetes pathogenesis by reducing peripheral insulin sensitivity, impairing glucose uptake, suppressing glycogen synthesis, and enhancing gluconeogenesis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70296","type":"journal-article","created":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T12:02:11Z","timestamp":1792584131000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Analysis of Whole Exome Sequencing Results of Type 2 Diabetic Pedigree"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3378-7415","authenticated-orcid":false,"given":"Jie","family":"Chen","sequence":"first","affiliation":[{"name":"The First Affiliated Hospital of Kunming Medical University  Kunming Yunnan China"},{"name":"Kunming Medical University  Kunming Yunnan 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