Author/Editor		Trebušak Podkrajšek, Katarina; Tesovnik, Tine; Božanić Urbančič, Nina; Battelino, Saba
Title		Novel GRHL2 gene variant associated with hearing loss
Type		članek
Vol. and No.		Letnik 12, št. 4
Publication year		2021
Volume		str. 1-8
ISSN		2073-4425 - Genes
Language		eng
Abstract		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.
Keywords		autosomal-dominant hearing loss next-generation sequencing GRHL2 gene avtosomno-dominantna izguba sluha zaporedje naslednje generacije gen GRHL2