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Despite the strong genotype\u2013phenotype correlation, a significant part of cases remains genetically unresolved. In this study, we investigated a cohort of 28 Dutch index cases diagnosed with HL in combination with an EVA but without (M0) or with a single (M1) pathogenic variant in\n                    <jats:italic>SLC26A4<\/jats:italic>\n                    . To explore the missing heritability, we first determined the presence of the previously described EVA-associated haplotype (Caucasian EVA (CEVA)), characterized by 12 single nucleotide variants located upstream of\n                    <jats:italic>SLC26A4<\/jats:italic>\n                    . We found this haplotype and a delimited V1-CEVA haplotype to be significantly enriched in our M1 patient cohort (10\/16 cases). The CEVA haplotype was also present in two M0 cases (2\/12). Short- and long-read whole genome sequencing and optical genome mapping could not prioritize any of the variants present within the CEVA haplotype as the likely pathogenic defect. Short-read whole-genome sequencing of the six M1 cases without this haplotype and the two M0\/CEVA cases only revealed previously overlooked or misinterpreted splice-altering\n                    <jats:italic>SLC26A4<\/jats:italic>\n                    variants in two cases, who are now genetically explained. No deep-intronic or structural variants were identified in any of the M1 subjects. With this study, we have provided important insights that will pave the way for elucidating the missing heritability in M0 and M1\n                    <jats:italic>SLC26A4<\/jats:italic>\n                    cases. For pinpointing the pathogenic effect of the CEVA haplotype, additional analyses are required addressing defect(s) at the RNA, protein, or epigenetic level.\n                  <\/jats:p>","DOI":"10.1007\/s00439-021-02336-6","type":"journal-article","created":{"date-parts":[[2021,8,19]],"date-time":"2021-08-19T03:03:20Z","timestamp":1629342200000},"page":"465-484","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant"],"prefix":"10.1007","volume":"141","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4241-0900","authenticated-orcid":false,"given":"Jeroen J.","family":"Smits","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2912-9265","authenticated-orcid":false,"given":"Suzanne E.","family":"de Bruijn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9397-7766","authenticated-orcid":false,"given":"Cornelis P.","family":"Lanting","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaap","family":"Oostrik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luke","family":"O\u2019Gorman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuomo","family":"Mantere","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"DOOFNL Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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