{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T10:08:11Z","timestamp":1790762891873,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,4,22]],"date-time":"2020-04-22T00:00:00Z","timestamp":1587513600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>4H leukodystrophy, also known as Pol III\u2010related leukodystrophy, is a rare autosomal recessive neurodegenerative disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. It is caused by biallelic mutations in <jats:styled-content style=\"fixed-case\"><jats:italic>POLR3A<\/jats:italic><\/jats:styled-content>, <jats:styled-content style=\"fixed-case\"><jats:italic>POL3RB<\/jats:italic><\/jats:styled-content>, or <jats:italic><jats:styled-content style=\"fixed-case\">POLR1C<\/jats:styled-content>.<\/jats:italic> So far, only two patients have been described with homozygosity for the common c.1568T&gt;A (p.Val523Glu) <jats:styled-content style=\"fixed-case\"><jats:italic>POLR3B<\/jats:italic><\/jats:styled-content> mutation, both of them showing a remarkably mild clinical course. Here, we report another patient with homozygosity for the same mutation, but with a more severe phenotype including ataxia, developmental delay, and intellectual disability. This information is of importance for clinicians to provide comprehensive counseling to patients with 4H leukodystrophy and their families.<\/jats:p>","DOI":"10.1002\/ajmg.a.61600","type":"journal-article","created":{"date-parts":[[2020,4,22]],"date-time":"2020-04-22T11:23:40Z","timestamp":1587554620000},"page":"1776-1779","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["<scp>4H<\/scp> leukodystrophy caused by a homozygous <i>POLR3B<\/i> mutation: Further delineation of the phenotype"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2327-1666","authenticated-orcid":false,"given":"Eline A.","family":"Verberne","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC University of Amsterdam  Amsterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lotje","family":"Dalen Meurs","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Fundashon Mariadal  Kralendijk Bonaire Netherlands"},{"name":"Department of Pediatrics Meander Medical Centre  Amersfoort Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1721-0728","authenticated-orcid":false,"given":"Nicole I.","family":"Wolf","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Emma Children's Hospital, Amsterdam UMC, and Amsterdam Neuroscience Vrije Universiteit  Amsterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mieke M.","family":"van Haelst","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC University of Amsterdam  Amsterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,22]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.07.014"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101357"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000409"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.9.18.13203"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00062-015-0472-1"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104064"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.003"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2010.09.009"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.006"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms8623"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001002"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61600","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61600","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61600","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61600","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T05:20:53Z","timestamp":1693804853000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61600"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,22]]},"references-count":11,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["10.1002\/ajmg.a.61600"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61600","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,22]]},"assertion":[{"value":"2019-12-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}