{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T20:02:09Z","timestamp":1790712129514,"version":"4.1.0"},"reference-count":29,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,3,20]],"date-time":"2023-03-20T00:00:00Z","timestamp":1679270400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold><jats:italic>PRDM12<\/jats:italic> is a newly discovered gene responsible for congenital insensitivity to pain (CIP). Its clinical manifestations are various and not widely known.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> The clinical data of two infants diagnosed with CIP associated with <jats:italic>PRDM12<\/jats:italic> mutation were collected. A literature review was performed, and the clinical characteristics of 20 cases diagnosed with a mutation of <jats:italic>PRDM12<\/jats:italic> were summarized and analyzed.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> Two patients had pain insensitivity, tongue and lip defects, and corneal ulcers. The genomic analysis results showed that variants of <jats:italic>PRDM12<\/jats:italic> were detected in the two families. The case 1 patient carried heterozygous variations of c.682+1G &amp;gt; A and c.502C &amp;gt; T (p.R168C), which were inherited from her father and mother, respectively. We enrolled 22 patients diagnosed with CIP through a literature review together with our cases. There were 16 male (72.7%) and 6 female (27.3%) patients. The age of onset ranged from 6 months to 57\u00a0years. The prevalence of clinic manifestation was 14 cases with insensitivity to pain (63.6%), 19 cases with self-mutilation behaviors (86.4%), 11 cases with tongue and lip defects (50%), 5 cases with mid-facial lesions (22.7%), 6 cases with distal phalanx injury (27.3%), 11 cases of recurrent infection (50%), 3 cases (13.6%) with anhidrosis, and 5 cases (22.7%) with global developmental delay. The prevalence of ocular symptoms was 11 cases (50%) with reduced tear secretion, 6 cases (27.3%) with decreased corneal sensitivity, 7 cases (31.8%) with disappeared corneal reflexes, 5.5 cases (25%, 0.5 indicated a single eye) with corneal opacity, 5 cases (22.7%) with corneal ulceration, and 1 case (4.5%) with a corneal scar.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> The syndrome caused by <jats:italic>PRDM12<\/jats:italic> mutation is a clinically distinct and diagnosable disease that requires joint multidisciplinary management to control the development of the disease and minimize the occurrence of complications.<\/jats:p>","DOI":"10.3389\/fgene.2023.1139161","type":"journal-article","created":{"date-parts":[[2023,3,20]],"date-time":"2023-03-20T05:26:43Z","timestamp":1679290003000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Congenital insensitivity to pain associated with PRDM12 mutation: Two case reports and a literature review"],"prefix":"10.3389","volume":"14","author":[{"given":"Hanrui","family":"Yu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinju","family":"Cong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingxiong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yifei","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jifeng","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liqiang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,3,20]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1038\/ng.3308","article-title":"Transcriptional regulator PRDM12 is essential for human pain perception","volume":"47","author":"Chen","year":"2015","journal-title":"Nat. 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