Publications by authors named "Rebecca Kriukelis"
Eur J Hum Genet
March 2024
Article Synopsis
- GJB2 gene mutations were initially linked to severe hearing loss but are now also connected to mild and moderate forms of hearing impairment, highlighting the need for understanding these genetic variations.
- In a study of 127 Australian children with hearing loss, about two-thirds carried specific GJB2 or GJB6 gene variants, with the most common variant being c.109 G>A, which was associated with milder hearing loss outcomes.
- The findings suggest that different GJB2 variants lead to varying degrees of hearing loss, thereby enhancing the accuracy of genetic counseling for affected families.
