{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T12:01:23Z","timestamp":1787313683815,"version":"build-2736575974"},"reference-count":34,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2024,4,9]],"date-time":"2024-04-09T00:00:00Z","timestamp":1712620800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"MRC CASE studentship with AstraZeneca"},{"name":"Indonesian Endowment Fund for Education"},{"DOI":"10.13039\/501100019899","name":"Ministry of Finance of Republic of Indonesia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100019899","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100018956","name":"Cambridge Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100018956","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000276","name":"Department of Health and Social Care","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000276","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,14]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>PRDM12 polyalanine tract expansions cause two different disorders: midfacial toddler excoriation syndrome (MiTES; itch with normal pain sensation associated with 18 homozygous alanines (18A); and congenital insensitivity to pain (CIP) with normal itch associated with 19 homozygous alanines (19A). Knowledge of the phenotype, genotype and disease mechanism of MiTES is incomplete. Why 18A vs. 19A PRDM12 can cause almost opposite phenotypes is unknown; no other polyalanine or polyglutamine tract expansion disease causes two such disparate phenotypes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To assess the genotype and phenotype of nine new, nine atypical and six previously reported patients diagnosed with MiTES.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Using cell lines with homozygous PR domain zinc finger protein 12 (PRDM12) containing 12 alanines (12A; normal), 18A (MiTES) and 19A (CIP), we examined PRDM12 aggregation and subcellular localization by image-separation confocal microscopy and subcellular fractionation Western blotting.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>MiTES presents in the first year of life; in all cases the condition regresses over the first decade, leaving scarring. The MiTES phenotype is highly distinctive. Features overlapping with PRDM12 CIP are rarely found. The genotype\u2013phenotype study of the PRDM12 polyalanine tract shows that having 7\u201315 alanines is normal; 16\u201318 alanines is associated with MiTES; 19 alanines leads to CIP; and no clinically atypical cases of MiTES had a polyalanine tract expansion. PRDM12 aggregation and subcellular localization differed significantly between 18A and normal 12A cell lines and between 18A and 19A cell lines. MiTES is a new protein-aggregation disease.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>We provide diagnostic criteria for MiTES and improved longitudinal data. MiTES and CIP are distinct phenotypes, despite their genotypes varying by a single alanine in the PRDM12 polyalanine tract. We found clear distinctions between the cellular phenotypes of normal, MiTES and CIP cells. We hypothesize that the developmental environment of the trigeminal ganglion is unique and critically sensitive to pre- and postnatal levels of PRDM12.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/bjd\/ljae151","type":"journal-article","created":{"date-parts":[[2024,4,8]],"date-time":"2024-04-08T18:19:02Z","timestamp":1712600342000},"page":"437-446","source":"Crossref","is-referenced-by-count":8,"title":["Midfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism"],"prefix":"10.1093","volume":"191","author":[{"given":"Nivedita","family":"Sarveswaran","sequence":"first","affiliation":[{"name":"Cambridge Institute for Medical Research, University of Cambridge , Cambridge , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunisa","family":"Pamela","sequence":"additional","affiliation":[{"name":"Cambridge Institute for Medical Research, University of Cambridge , Cambridge , UK"},{"name":"Department of Biomedical Sciences, Faculty of Medicine, Universitas Padjadjaran , Bandung , Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akhila A N","family":"Reddy","sequence":"additional","affiliation":[{"name":"Dr. Anchala Skin Institute and Research Center , Hyderabad , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8224-0221","authenticated-orcid":false,"given":"Akash P","family":"Mustari","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research , Chandigarh , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anchala","family":"Parthasarathi","sequence":"additional","affiliation":[{"name":"Dr. Anchala Skin Institute and Research Center , Hyderabad , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony J","family":"Mancini","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Pediatrics, Ann & Robert H. 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