20.500.12556/RUL-135190 Novel GRHL2 gene variant associated with hearing loss a case report and review of the literature In contrast to the recessive form, hearing loss inherited in a dominant manner is more often post-lingual and typically results in a progressive sensorineural hearing loss with variable severity and late onset. Variants in the GRHL2 gene are an extremely rare cause of dominantly inherited hearing loss. Genetic testing is a crucial part of the identification of the etiology of hearing loss in individual patients, especially when performed with next-generation sequencing, enabling simultaneous analysis of numerous genes, including those rarely associated with hearing loss. We aimed to evaluate the genetic etiology of hearing loss in a family with moderate late-onset hearing loss using next-generation sequencing and to conduct a review of reported variants in the GRHL2 gene. We identified a novel disease-causing variant in the GRHL2 gene (NM_024915: c.1510C>T; p.Arg504Ter) in both affected members of the family. They both presented with moderate late-onset hearing loss with no additional clinical characteristics. Reviewing known GRHL2 variants associated with hearing loss, we can conclude that they are more likely to be truncating variants, while the associated onset of hearing loss is variable. autosomal-dominant hearing loss next-generation sequencing NGS GRHL2 gene avtosomno dominantna izguba sluha zaporedje naslednje generacije gen GRHL2 true false true Angleški jezik Slovenski jezik Članek v reviji 2022-02-28 11:17:51 2022-02-28 11:17:54 2022-09-14 04:12:04 0000-00-00 00:00:00 2021 0 0 8 str. iss. 4, art. 484 Vol. 12 2021 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.21 2073-4425 10.3390/genes12040484 57531139 RAZ_Trebusak_Podkrajsek_Katarina_2021.pdf RAZ_Trebusak_Podkrajsek_Katarina_2021.pdf 1 C743B25A0A434F8C37651A84F46DBB1F ca19a605aee5ff9222d584efe9622d5032912a8b0139b73bdc38010f340d3e5a b0e4b145-987f-11ec-abdb-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=154088 https://www.mdpi.com/2073-4425/12/4/484 1 6e0311b3-987f-11ec-abdb-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=154087 Medicinska fakulteta 0 0 0