Novel GRHL2 gene variant associated with hearing loss

ǂa ǂcase report and review of the literature

Katarina Trebušak Podkrajšek (Avtor), Tine Tesovnik (Avtor), Nina Božanić Urbančič (Avtor), Saba Battelino (Avtor)

Povzetek

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.

Ključne besede

autosomal-dominant hearing loss;next-generation sequencing;GRHL2 gene;

Podatki

Jezik:	Angleški jezik
Leto izida:	2021
Tipologija:	1.02 - Pregledni znanstveni članek
Organizacija:	UL MF - Medicinska fakulteta
UDK:	616.21
COBISS:	57531139
ISSN:	2073-4425
Št. ogledov:	134
Št. prenosov:	39
Ocena:	0 (0 glasov)
Metapodatki:

Ostali podatki

Sekundarni jezik:	Slovenski jezik
Sekundarne ključne besede:	avtosomno-dominantna izguba sluha;zaporedje naslednje generacije;gen GRHL2;
Vrsta dela (COBISS):	Članek v reviji
Strani:	str. 1-8
Letnik:	ǂVol. ǂ12
Zvezek:	ǂno. ǂ4
Čas izdaje:	2021
DOI:	10.3390/genes12040484
ID:	14641683