https://m2.mtmt.hu/ eng 2026-08-25 12:31 JournalArticle 37113774 VALIDATED true 0 false 2026-06-11T07:11:49.995+0000 2026-06-11T07:11:11.020+0000 2026-05-07T13:25:35.564+0000 true 10003254 Barkai László /api/author/10003254 Author László Barkai (Gyermekgyógyászat) true 10003254 2026-06-11T07:10:44.581+0000 2026-06-11T07:10:44.581+0000 2026-06-11T07:11:07.168+0000 true 10015207 Tamássyné T. Zsuzsa /api/admin/10015207 Admin Zsuzsa Tamássyné T. (OE admin) true 10015207 2026-06-11T07:11:11.027+0000 true 10015207 Tamássyné T. Zsuzsa /api/admin/10015207 Admin Zsuzsa Tamássyné T. (OE admin) true 10015207 true false true 24 24 /api/publicationtype/24 PublicationType Journal Article 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType Journal Article 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType Article (Journal Article) 101 true 10000059 true 1 /api/category/1 Category Scientific true 1 Drobňaková, Simona true true /api/journal/10024487 REVIEWED LIFE-BASEL 2075-1729 true false 10024487 false 10024487 true 2075-1729 Journal FOREIGN 16 5 738 738 13 2026 (1) Background: The characteristics of rare diseases (RDs) vary considerably—not only between different disease types but also between individual patients with the same condition. In the Roma community, we analyzed the most frequent rare genetic disorders related to the founder effect. (2) Methods: This retrospective study, conducted between January 2019 and January 2025 at the Clinical Genetics and Metabolics Outpatient Clinic in Košice, included 61 patients aged from infancy to 25 years diagnosed with hypomyelinating leukodystrophy 14, pontocerebellar hypoplasia type 1B, neuronal ceroid lipofuscinosis 7, or TMEM70 deficiency. (3) Results: This study includes the largest known cohort of patients with hypomyelinating leukodystrophy 14 caused by the UFM1 c.-273_-271delTCA mutation, predominantly affecting males (n = 17). The disorder is severe, with most patients dying before one year of age, and is characterized by inspiratory stridor, axial hypotonia, spastic quadriparesis, pseudobulbar signs, and microcephaly. In a separate group with pontocerebellar hypoplasia type 1B, six Roma patients (three males, three females) shared the same EXOSC3 mutation. Diagnosis occurred at an average age of 8.8 months, and most children did not survive beyond three years. Common features included microcephaly, severe hypotonia, and spastic quadriplegia. Thirteen children from eight families were diagnosed with neuronal ceroid lipofuscinosis 7, all carrying the same MFSD8 mutation. Symptoms typically began with psychomotor regression between ages 3 and 4, along with intellectual disability and seizures, which were more frequent in males. The mean age at diagnosis was 4.5 years, and eight children died before age nine. Finally, 25 patients with TMEM70 deficiency associated with Roma ancestry were identified, predominantly females, with a mean age of 9.95 years and the oldest patient aged 25. Four children died due to severe metabolic crises. Common findings included intellectual disability, global hypotonia, hypertrophic cardiomyopathy, epilepsy, and failure to thrive. (4) Conclusions: Most rare diseases are genetic and carry high morbidity and mortality, with no targeted therapies currently available. Their increased prevalence in the Roma population reflects founder effects and high consanguinity. Prenatal and newborn screening, along with voluntary carrier testing for couples, is essential for proactive health management. Funding 2067854 /api/funding/2067854 (TKP2021-NKTA-36) false true Funding 2067855 /api/funding/2067855 (K-142904) false true true 2026 true true true false true false GOLD 2026-06-11 true https://doi.org/10.3390/life16050738 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Q1 484279 false false false false 2026-06-10T07:11:06.949+0000 Egyetemi Kutató és Innovációs Központ (ÓE) 1 11 1 8 0 true Language 10002 /api/language/10002 English Angol English true 2 true PersonAuthorship 137794103 /api/authorship/137794103 Drobňaková, Simona 1 0.125 true false false Drobňaková Simona true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 137794104 /api/authorship/137794104 Andrejková, Mária 2 0.125 false false false Andrejková Mária true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 137794105 /api/authorship/137794105 Šaligová, Jana 3 0.125 false false false Šaligová Jana true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 137794106 /api/authorship/137794106 Potočňáková, Ľudmila 4 0.125 false false false Potočňáková Ľudmila true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 137794107 /api/authorship/137794107 Vargová, Veronika 5 0.125 false false false Vargová Veronika true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 137794108 /api/authorship/137794108 Kuchta, Milan 6 0.125 false false false Kuchta Milan true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 137794109 /api/authorship/137794109 Beňačka, Roman 7 0.125 false false false Beňačka Roman true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 137794110 /api/authorship/137794110 Barkai, László ✉ [Barkai, László (Gyermekgyógyászat), author] Egyetemi Kutató és Innovációs Központ (ÓU) 8 0.125 false true true Author 10003254 /api/author/10003254 László Barkai (Gyermekgyógyászat) Barkai László true 10003254 true Barkai László true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PublicationIdentifier 31969782 /api/publicationidentifier/31969782 DOI: 10.3390/life16050738 PlainSource 6 /api/publicationsource/6 DOI PublicationSourceType 10001 /api/publicationsourcetype/10001 DOI true true true DOI DOI https://doi.org/@@@ true true 6 true GOLD true IDENTICAL 10.3390/life16050738 https://doi.org/10.3390/life16050738 false true PublicationIdentifier 32489588 /api/publicationidentifier/32489588 WoS: 001775757300001 PlainSource 1 /api/publicationsource/1 WoS PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 001775757300001 https://www.webofscience.com/wos/woscc/full-record/001775757300001 false true PublicationIdentifier 32489589 /api/publicationidentifier/32489589 Scopus: 105040060047 PlainSource 3 /api/publicationsource/3 Scopus PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 3 true IDENTICAL 105040060047 http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-105040060047 false true Classification 12422 /api/classification/12422 Child health true true Classification 12220 /api/classification/12220 Paediatrics true true PredatorRating 11744097 /api/predatorrating/11744097 Norwegian Register for Scientific Journals:484279 LIFE-BASEL 2075-1729 RatingType 10033 /api/ratingtype/10033 Norwegian Register for Scientific Journals norveg true true 484279 true true SjrRating 11657638 /api/sjrrating/11657638 sjr:Q1 (2026) Scopus - Ecology, Evolution, Behavior and Systematics LIFE-BASEL 2075-1729 130 0.24 journal RatingType 10002 /api/ratingtype/10002 sjr sjr true true ClassificationExternal 1105 /api/classificationexternal/1105 Scopus - Ecology, Evolution, Behavior and Systematics true 1105 true Q1 FROM_LAST_YEAR true true Reference 75179626 /api/reference/75179626 1. 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(2026) LIFE-BASEL 2075-1729 16 5<div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <div class="autype autype0"> <span class="author-name" >Drobňaková Simona </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Andrejková Mária </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Šaligová Jana </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Potočňáková Ľudmila </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Vargová Veronika </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Kuchta Milan </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Beňačka Roman </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10003254"><a href="/gui2/?type=authors&mode=browse&sel=10003254" target="_blank">Barkai László ✉ (<span class="authorship-author-name">Barkai László</span> <span class="authorAux-mtmt"> Gyermekgyógyászat</span>) </a> </span> <span class="author-affil"><span title="Óbuda University">ÓU</span>/Egyetemi Kutató és Innovációs Központ</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;37113774" target="_blank">Rare Genetic Diseases with Founder Effect in Roma Children</a></div> <div> <span class="journal-title">LIFE-BASEL</span> <span class="journal-issn">( <a target="_blank" href="https://portal.issn.org/resource/ISSN/2075-1729">2075-1729</a>)</span>: <span class="journal-volume">16</span> <span class="journal-issue">5</span> <span class="page"> Paper 738. 13 p. </span> <span class="year">(2026)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Language: English | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.3390/life16050738" target="_blank" href="https://doi.org/10.3390/life16050738"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001775757300001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001775757300001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="105040060047" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-105040060047"> Scopus </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Journal subject: Scopus - Ecology, Evolution, Behavior and Systematics&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q1</div> <div class="journal-subject">Journal subject: Scopus - Paleontology&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q1</div> <div class="journal-subject">Journal subject: Scopus - Biochemistry, Genetics and Molecular Biology (miscellaneous)&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q2</div> <div class="journal-subject">Journal subject: Scopus - Space and Planetary Science&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q2</div> <div class="journal-subject">Norwegian Register for Scientific Journals</div> </div></OnlyViewableByAuthor> <div class="mtid"><span class="long-pub-mtid">Publication: 37113774</span> | <span class="status-data status-VALIDATED"> Validated </span> Core | <span class="type-subtype">Journal Article ( Article ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData"></span> </div> <div class="funder"> (TKP2021-NKTA-36), (K-142904) </div> <div class="lastModified">Last Modified: 2026.06.11. 09:11 Zsuzsa Tamássyné T. (OE admin) </div> </div></div>