{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T19:23:22Z","timestamp":1792265002899,"version":"4.4.0"},"reference-count":17,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,5,12]],"date-time":"2022-05-12T00:00:00Z","timestamp":1652313600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100017718","name":"Natural Science Foundation of Yichang City","doi-asserted-by":"publisher","award":["No. A12-301-23 , No. A18-301-32"],"award-info":[{"award-number":["No. A12-301-23 , No. A18-301-32"]}],"id":[{"id":"10.13039\/100017718","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:p>Type A Insulin resistance syndrome (TAIRS) is an autosomal dominant or recessive genetic disorder caused by insulin dysfunction resulting from insulin receptor (INSR) gene mutation. The main features of TAIRS include hyperinsulinemia, abnormal glucose metabolism, and changes in acanthosis nigricans. We identified, in China, a TAIRS family with a novel heterozygous missense gene mutation type. One patient from the Chinese Han family exhibited signs and symptoms of TAIRS and was presented for evaluation. Whole-exome sequencing revealed a heterozygous mutation. Both the patient proband and his father were identified with insulin receptor exon 19c.3472C&amp;gt;T(p.Arg1158Trp), which resulted in a missense mutation that led to replace by a base in the amino acid codon. We found that the patient proband and his father exhibited high insulin and C-peptide release after glucose stimulation by insulin and C-peptide release tests. At the same time, we also ruled out the possibility of islet \u03b2cell tumor through relevant examinations. These findings indicate that the INSR gene mutation may cause pancreatic \u03b2 cell functional impairment and contribute to the development of diabetes.<\/jats:p>","DOI":"10.3389\/fendo.2022.895424","type":"journal-article","created":{"date-parts":[[2022,5,12]],"date-time":"2022-05-12T14:10:06Z","timestamp":1652364606000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":12,"title":["Case Report: A Chinese Family of Type A Insulin Resistance Syndrome With Diabetes Mellitus, With a Novel Heterozygous Missense Mutation of the Insulin Receptor Gene"],"prefix":"10.3389","volume":"13","author":[{"given":"Wei","family":"You","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianming","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanqun","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fangyuan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,5,12]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3283938","article-title":"Insulin-Resistant Diabates Due to a Point Mutation That Prevents Insulin Proreceptor Processing","volume":"240","author":"Yoshimasa","year":"1988","journal-title":"Science"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1126\/science.2834824","article-title":"Two Mutant Alleies of the Insulin Receptor Gene Inapatient With Extreme Insulin Resistance","volume":"240","author":"Kudowaki","year":"1988","journal-title":"Science"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1210\/edrv-16-2-117","article-title":"Insulin Action and the Insulin Signaling Network","volume":"16","author":"Cheatham","year":"1995","journal-title":"Endocr Revt"},{"key":"B4","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1034\/j.1399-5448.2000.010203.x","article-title":"Defective Insulin Receptors in Rabson-Mendenhall Syndrome Cause Complete Peripheral Insulin Resistance But Minimal Hepatic Insulin Response Remains","author":"Davis","year":"2000","journal-title":"Pediatr Diabetes"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1097\/01.md.0000133625.73570.54","article-title":"Clinical Course of Genetic Diseases of the Insulin Receptor(Type A and Rabs on-Mendenhallsyndromes): A 30-Yearprospective","volume":"83","author":"Musso","year":"2004","journal-title":"Medicine(Baltimore)"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-73-6-1158","article-title":"Genetic Basis of Endocrine Disease. 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