Avtor/Urednik		Trebušak Podkrajšek, Katarina; Tesovnik, Tine; Božanić Urbančič, Nina; Battelino, Saba
Naslov		Novel GRHL2 gene variant associated with hearing loss
Tip		članek
Vol. in št.		Letnik 12, št. 4
Leto izdaje		2021
Obseg		str. 1-8
ISSN		2073-4425 - Genes
Jezik		eng
Abstrakt		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.
Proste vsebinske oznake		autosomal-dominant hearing loss next-generation sequencing GRHL2 gene avtosomno-dominantna izguba sluha zaporedje naslednje generacije gen GRHL2