ALL libraries (COBIB.SI union bibliographic/catalogue database)
PDF
  • Novel GRHL2 gene variant associated with hearing loss [Elektronski vir] : a case report and review of the literature
    Trebušak Podkrajšek, Katarina ...
    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.
    Source: Genes [Elektronski vir]. - ISSN 2073-4425 (Vol. 12, no. 4, 2021, str. 1-8)
    Type of material - e-article ; adult, serious
    Publish date - 2021
    Language - english
    COBISS.SI-ID - 57531139

    Link(s):

    https://www.mdpi.com/2073-4425/12/4/484
    Repository of the University of Ljubljana – RUL
    DOI

Shelf entry