{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T18:42:13Z","timestamp":1785436933565,"version":"3.56.0"},"reference-count":38,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T00:00:00Z","timestamp":1776297600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"European Union\u2014NextGenerationEU through the Institute for Anthropological Research","award":["20260138"],"award-info":[{"award-number":["20260138"]}]},{"award":["20260138"],"award-info":[{"award-number":["20260138"]}],"id":[{"id":"https:\/\/ror.org\/001xj8m36","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background\/Objectives: Hearing impairment is a highly prevalent sensory disorder resulting from a variety of causes. A high proportion of autosomal recessive non-syndromic hearing impairment is linked to the GJB2 (OMIM 121011) gene which encodes for a gap junction protein, connexin-26. Alterations of genes that encode for connexins can lead to changes in cell ion content and cause hearing impairment. Methods: GJB2 gene polymorphisms (c.71G&gt;A, p.Trp24*rs104894396; c.457G&gt;A, p.Val153Ile, rs111033186; c.380G&gt;A, p.Arg127His, rs111033196; c.109G&gt;A, p.Val37Ile, rs72474224; and c.269T&gt;C, p.Leu90Pro, rs80338945) were analyzed in the Roma population of Croatia. Loci were genotyped using the KASP method. Results: Altered alleles were detected on the loci c.71G&gt;A, c.457G&gt;A and c.380G&gt;A and statistically significant differences in allele frequencies were noticed. Furthermore, in comparison to worldwide populations, the Roma population also shows statistically significant difference in allele frequency of these loci. Conclusions: This study reveals marked genetic differentiation among Croatian Roma particularly with respect to the c.71G&gt;A variant. Characterizing such population-specific mutational heterogeneity is crucial for the accurate prevention, diagnosis, and clinical management of autosomal recessive nonsyndromic hearing loss.<\/jats:p>","DOI":"10.3390\/genes17040468","type":"journal-article","created":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T11:35:42Z","timestamp":1776339342000},"page":"468","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Population-Specific Mutational Spectrum of Autosomal Recessive Nonsyndromic Hearing Loss in Croatian Roma: Implications for Clinical Genetics"],"prefix":"10.3390","volume":"17","author":[{"given":"Iva","family":"Kutija Fu\u010dkar","sequence":"first","affiliation":[{"name":"Institute of Immunology, 10000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8960-4446","authenticated-orcid":false,"given":"Matea","family":"Zajc Petranovi\u0107","sequence":"additional","affiliation":[{"name":"Institute for Anthropological Research, 10000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irena","family":"Martinovi\u0107 Klari\u0107","sequence":"additional","affiliation":[{"name":"Institute for Migration Research, 10000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marijana","family":"Peri\u010di\u0107 Salihovi\u0107","sequence":"additional","affiliation":[{"name":"Institute for Anthropological Research, 10000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lovorka","family":"Bara\u0107 Lauc","sequence":"additional","affiliation":[{"name":"Institute for Anthropological Research, 10000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,4,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1016\/S0140-6736(21)00522-5","article-title":"Addressing the global burden of hearing loss","volume":"397","author":"Wilson","year":"2021","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1056\/NEJMra050700","article-title":"Newborn hearing screening\u2014A silent revolution","volume":"354","author":"Morton","year":"2006","journal-title":"N. 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