{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T02:51:38Z","timestamp":1771901498056,"version":"3.50.1"},"reference-count":16,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,8,27]],"date-time":"2021-08-27T00:00:00Z","timestamp":1630022400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003549","name":"Hungarian Scientific Research Fund","doi-asserted-by":"publisher","award":["K109076"],"award-info":[{"award-number":["K109076"]}],"id":[{"id":"10.13039\/501100003549","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Ministry of National Economy","award":["GINOP-2.3.2-15-2016-00039"],"award-info":[{"award-number":["GINOP-2.3.2-15-2016-00039"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Ufmylation is a relatively newly discovered type of post-translational modification when the ubiquitin-fold modifier 1 (UFM1) protein is covalently attached to its target proteins in a three-step enzymatic reaction involving an E1 activating enzyme (UBA5), E2 conjugating enzyme (UFC1), and E3 ligase enzyme (UFL1). The process of ufmylation is essential for normal brain development and function in humans. Mutations in the UFM1 gene are associated with Hypomyelinating leukodystrophy type 14, presenting with global developmental delay, failure to thrive, progressive microcephaly, refractive epilepsy, and hypomyelination, with atrophy of the basal ganglia and cerebellum phenotypes. The c.-155_-153delTCA deletion in the promoter region of UFM1 is considered to be a founding mutation in the Roma population. Here we present four index patients with homozygous UFM1:c.-155_-153delTCA mutation detected by next-generation sequencing (whole genome\/exome sequencing) or Sanger sequencing. This mutation may be more common in the Roma population than previously estimated, and the targeted testing of the UFM1:c.-155_-153delTCA mutation may have an indication in cases of hypomyelination and neurodegenerative clinical course in pediatric patients of Roma descent.<\/jats:p>","DOI":"10.3390\/genes12091331","type":"journal-article","created":{"date-parts":[[2021,8,27]],"date-time":"2021-08-27T09:53:23Z","timestamp":1630058003000},"page":"1331","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Four New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2836-3383","authenticated-orcid":false,"given":"Zsuzsanna","family":"Sz\u0171cs","sequence":"first","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R\u00e9ka","family":"Fitala","sequence":"additional","affiliation":[{"name":"Velkey L\u00e1szl\u00f3 Child Health Center, Borsod-Aba\u00faj-Zempl\u00e9n County Central Regional Hospital and University Educational Center, 3526 Miskolc, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1gnes Ren\u00e1ta","family":"Nyuz\u00f3","sequence":"additional","affiliation":[{"name":"Velkey L\u00e1szl\u00f3 Child Health Center, Borsod-Aba\u00faj-Zempl\u00e9n County Central Regional Hospital and University Educational Center, 3526 Miskolc, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krisztina","family":"Fodor","sequence":"additional","affiliation":[{"name":"Velkey L\u00e1szl\u00f3 Child Health Center, Borsod-Aba\u00faj-Zempl\u00e9n County Central Regional Hospital and University Educational Center, 3526 Miskolc, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3697-183X","authenticated-orcid":false,"given":"\u00c9va","family":"Czemmel","sequence":"additional","affiliation":[{"name":"Neurodevelopmental Ward, St. Margaret Hospital, 1032 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N\u00f3ra","family":"Vrancsik","sequence":"additional","affiliation":[{"name":"Division of Radiology, Department of Medical Imaging, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00f3nika","family":"Bessenyei","sequence":"additional","affiliation":[{"name":"Institute of Pediatrics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tam\u00e1s","family":"Szab\u00f3","sequence":"additional","affiliation":[{"name":"Institute of Pediatrics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katalin","family":"Szakszon","sequence":"additional","affiliation":[{"name":"Institute of Pediatrics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3397-2829","authenticated-orcid":false,"given":"Istv\u00e1n","family":"Balogh","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"},{"name":"Department of Human Genetics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/j.gpb.2016.04.001","article-title":"UFMylation: A unique & fashionable modification for life","volume":"14","author":"Wei","year":"2016","journal-title":"Genom. 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