Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature
1
Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia
2
University Medical Centre Ljubljana, University Children’s Hospital, Bohoriceva 20, 1000 Ljubljana, Slovenia
3
Department of Otorhinolaryngology and Cervicofacial Surgery, University Medical Centre Ljubljana, Zaloska 2, 1000 Ljubljana, Slovenia
4
Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia
*
Author to whom correspondence should be addressed.
Academic Editor: Isabelle Schrauwen
Genes 2021, 12(4), 484; https://doi.org/10.3390/genes12040484
Received: 27 February 2021
/
Revised: 16 March 2021
/
Accepted: 23 March 2021
/
Published: 26 March 2021
(This article belongs to the Special Issue Genetic Basis of Sensory and Neurological Disorders)
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.
View Full-Text
▼
Show Figures
Figure 1
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited
MDPI and ACS Style
Trebusak Podkrajsek, K.; Tesovnik, T.; Bozanic Urbancic, N.; Battelino, S. Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature. Genes 2021, 12, 484. https://doi.org/10.3390/genes12040484
AMA Style
Trebusak Podkrajsek K, Tesovnik T, Bozanic Urbancic N, Battelino S. Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature. Genes. 2021; 12(4):484. https://doi.org/10.3390/genes12040484
Chicago/Turabian StyleTrebusak Podkrajsek, Katarina, Tine Tesovnik, Nina Bozanic Urbancic, and Saba Battelino. 2021. "Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature" Genes 12, no. 4: 484. https://doi.org/10.3390/genes12040484
Find Other Styles
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.
