{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T14:27:32Z","timestamp":1790692052133,"version":"4.1.0"},"reference-count":48,"publisher":"BMJ","issue":"10","license":[{"start":{"date-parts":[[2023,5,16]],"date-time":"2023-05-16T00:00:00Z","timestamp":1684195200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Leuco-Action"},{"DOI":"10.13039\/501100020867","name":"Fondation de l'H\u00f4pital de Montr\u00e9al pour enfants","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100020867","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Children\u2019s Mercy Research Institute and Genomic Answers for Kids program at Children\u2019s Mercy Kansas City"},{"name":"Canadian Research Chair CRC-II on the Neurobiology of epilepsy"},{"name":"Fonds de Recherche du Quebec \u2013 Sant\u00e9"},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["377869"],"award-info":[{"award-number":["377869"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["426534"],"award-info":[{"award-number":["426534"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"CIHR","doi-asserted-by":"crossref","award":["2017-2022"],"award-info":[{"award-number":["2017-2022"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2023,4,16]]},"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>RNA polymerase III-related or 4H leukodystrophy (POLR3-HLD) is an autosomal recessive hypomyelinating leukodystrophy characterized by neurological dysfunction, hypodontia and hypogonadotropic hypogonadism. The disease is caused by biallelic pathogenic variants in <jats:italic>POLR3A<\/jats:italic>, <jats:italic>POLR3B<\/jats:italic>, <jats:italic>POLR1C<\/jats:italic> or <jats:italic>POLR3K<\/jats:italic>. Craniofacial abnormalities reminiscent of Treacher Collins syndrome have been originally described in patients with POLR3-HLD caused by biallelic pathogenic variants in <jats:italic>POLR1C<\/jats:italic>. To date, no published studies have appraised in detail the craniofacial features of patients with POLR3-HLD. In this work, the specific craniofacial characteristics of patients with POLR3-HLD associated with biallelic pathogenic variants in <jats:italic>POLR3A<\/jats:italic>, <jats:italic>POLR3B<\/jats:italic> and <jats:italic>POLR1C<\/jats:italic> are described.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>The craniofacial features of 31 patients with POLR3-HLD were evaluated, and potential genotype\u2013phenotype associations were evaluated.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Various craniofacial abnormalities were recognized in this patient cohort, with each individual presenting at least one craniofacial abnormality. The most frequently identified features included a flat midface (61.3%), a smooth philtrum (58.0%) and a pointed chin (51.6%). In patients with <jats:italic>POLR3B<\/jats:italic> biallelic variants, a thin upper lip was frequent. Craniofacial anomalies involving the forehead were most commonly associated with biallelic variants in <jats:italic>POLR3A<\/jats:italic> and <jats:italic>POLR3B<\/jats:italic> while a higher proportion of patients with <jats:italic>POLR1C<\/jats:italic> biallelic variants demonstrated bitemporal narrowing.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Through this study, we demonstrated that craniofacial abnormalities are common in patients with POLR3-HLD. This report describes in detail the dysmorphic features of POLR3-HLD associated with biallelic variants in <jats:italic>POLR3A<\/jats:italic>, <jats:italic>POLR3B<\/jats:italic> and <jats:italic>POLR1C<\/jats:italic>.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2023-109223","type":"journal-article","created":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T03:22:16Z","timestamp":1684293736000},"page":"1026-1034","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":11,"title":["Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <i>POLR3A<\/i>, <i>POLR3B<\/i> and <i>POLR1C<\/i>"],"prefix":"10.1136","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8887-1681","authenticated-orcid":false,"given":"Amytice","family":"Mirchi","sequence":"first","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada"},{"name":"Department of Pediatrics, McGill University, Montreal, Quebec, Canada"},{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon-Pierre","family":"Guay","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, Montreal, Quebec, Canada"},{"name":"Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luan T","family":"Tran","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada"},{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole I","family":"Wolf","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children\u2019s Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adeline","family":"Vanderver","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA"},{"name":"Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Brais","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada"},{"name":"Department of Human Genetics, McGill University, Montreal, Quebec, Canada"},{"name":"Montreal Neurological Institute, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Sylvain","sequence":"additional","affiliation":[{"name":"Centre M\u00e8re Enfant, CHU de Qu\u00e9bec, Qu\u00e9bec City, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Pohl","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsa","family":"Rossignol","sequence":"additional","affiliation":[{"name":"Departments of Neurosciences and Pediatrics, CHU-Sainte-Justine, Universit\u00e9 de Montr\u00e9al, Montreal, Quebec, 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France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00e1szl\u00f3","family":"Sztriha","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Albert Szent-Gy\u00f6rgyi Medical School, University of Szeged, Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Glamuzina","sequence":"additional","affiliation":[{"name":"Adult and Paediatric National Metabolic Service, Starship Children\u2019s Hospital, Auckland, Te Whatu Ora, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serge B","family":"Melan\u00e7on","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, McGill University Health Centre, Montreal Children\u2019s Hospital, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sakkubai","family":"Naidu","sequence":"additional","affiliation":[{"name":"Department of Neurogenetics, Kennedy Krieger Institute, Johns 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POLR3-related leukodystrophy. In: Adam MP , Mirzaa GM , Pagon RA , eds. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle, 1993. 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