{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T03:56:19Z","timestamp":1790394979635,"version":"4.1.0"},"reference-count":35,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,9,13]],"date-time":"2021-09-13T00:00:00Z","timestamp":1631491200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal recessive non\u2010syndromic hearing loss (ARNSHL) is the most common inherited sensory impairment. It is particularly frequent in North African populations who have a high rate of consanguineous marriage. The c.242G&gt;A homozygous variant in <jats:italic>LRTOMT<\/jats:italic> gene was previously established as pathogenic and is associated with NSHL in both humans and mice. The aim of this study is to determine the carrier frequency for the <jats:italic>LRTOMT<\/jats:italic> c.242G&gt;A variant and also to estimate its age in addition to evaluating its diagnostic potential as a deafness biomarker among various populations and ethnicities in Northern African countries. A total of 179\u00a0Tunisian and 34 Libyan unrelated deafness patients were screened for this variant. The homozygous c.242G&gt;A variant was found in 5.02% and 2.94% in Tunisian and Libyan families, respectively. Subsequent screening for this variant in 263\u00a0healthy controls of various ethnicities (136\u00a0Tunisian Berbers, 32 Andalusian and 95\u00a0Tunisian from undefined ethnic origin) revealed higher frequency for the heterozygous state among Tunisians of Berber origin only (19.11%). Genotyping 7\u00a0microsatellite markers nearby the variant location in ARNSHL patients who had the homozygous variant revealed the same haplotype suggesting a common founder origin for this variant. The age of this variant was estimated to be between 2025 and 3425\u00a0years (this corresponds to 3400\u00a0years when the variant rate was set at 10<jats:sup>\u22123<\/jats:sup> or 2600\u00a0years when the variant rate is set at 10<jats:sup>\u22122<\/jats:sup>), spreading along with the Berber population who migrated to North Africa. In conclusion, the <jats:italic>LRTOMT<\/jats:italic> c.242G&gt;A homozygous variant could be used as a useful deafness biomarker for North African ARNSHL patients meanwhile the heterozygous variant could be utilized in genealogical studies for tracing those of the Berber ethnic group.<\/jats:p>","DOI":"10.1002\/mgg3.1810","type":"journal-article","created":{"date-parts":[[2021,9,13]],"date-time":"2021-09-13T08:15:52Z","timestamp":1631520952000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Deep analysis of the <scp>LRTOMTc.242G&gt;A<\/scp> variant in non\u2010syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9663-9885","authenticated-orcid":false,"given":"Mohamed Ali","family":"Mosrati","sequence":"first","affiliation":[{"name":"Laboratoire de 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