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Targeted next-generation sequencing of over 150 known deafness genes was performed in the proband. Sanger sequencing was used to validate the\n                    <jats:italic>PJVK<\/jats:italic>\n                    variant and confirm familial segregation of the disease. A minigene-based assay has been performed to assess the impact of the variant on splicing. We identified a novel c.550-6A\u2009&gt;\u2009G acceptor splice-site variant in the\n                    <jats:italic>PJVK<\/jats:italic>\n                    gene in the homozygous state in a Mauritanian child with severe to profound congenital deafness. The substitution was located in intron 4. The effect of the variation was demonstrated by a minigene assay which showed that the variation, an insertion of an additional 5 bp, created a new splice site resulting in the appearance of a premature stop codon (p.Phe184Tyrfs*26) and likely a truncated protein. This result constitutes a new splice-site variant report in the\n                    <jats:italic>PJVK<\/jats:italic>\n                    gene leading to DFNB59 type associated with autosomal recessive non-syndromic hearing impairment (ARNSHI).\n                  <\/jats:p>","DOI":"10.1007\/s13353-024-00903-x","type":"journal-article","created":{"date-parts":[[2024,9,4]],"date-time":"2024-09-04T05:02:40Z","timestamp":1725426160000},"page":"925-932","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment"],"prefix":"10.1007","volume":"66","author":[{"given":"Malak","family":"Salame","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Crystel","family":"Bonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amrit","family":"Singh-Estivalet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selma Mohamed","family":"Brahim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Solene","family":"Roux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ely Cheikh","family":"Boussaty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mouna","family":"Hadrami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheikh Tijani","family":"Hamed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdellahi M\u2019hamed","family":"Sidi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatimetou","family":"Veten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Petit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Houmeida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,9,4]]},"reference":[{"issue":"1","key":"903_CR1","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1186\/s12920-020-00859-x","volume":"14","author":"A Ahmed","year":"2021","unstructured":"Ahmed A, Wang M, Khan R, Shah AA, Guo H, Malik S, Xia K, Hu Z (2021) A splice-site variant (c.3289\u20131G>T) in OTOF underlies profound hearing loss in Pakistani kindred. 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Written informed consent was obtained from the parents of the child.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was collected on behalf of all participants in the study from the elders\/guardians to publish the clinical details and pedigree.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}