|Gene (OMIM no.)|
|Function of gene/protein|
|Clinical phenotype (with OMIM phenotype no.)|
|Molecular diagnosis||Next generation sequencing|
|Therapies under research|
WHRN mutations are associated with Usher syndrome type 2D or non-syndromic deafness (DFNB31). The associated phenotypes are thought to be dependent on the mutation location within the two predominantly expressed variants (long and short). N-terminal mutations that affect the long isoform are found in Usher patients,3,4 whereas mutations in the C-terminal region manifest as DFNB31.5,6
- Zou J, Luo L, Shen Z, et al. Whirlin Replacement Restores the Formation of the USH2 Protein Complex in Whirlin Knockout Photoreceptors. Invest Ophthalmol Vis Sci. 2011;52(5):2343-2351.
- Isgrig K, Shteamer JW, Belyantseva IA, et al. Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome. Mol Ther. 2017;25(3):780-791.
- Ebermann I, Scholl HPN, Issa PC, et al. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum Genet. 2007;121(2):203-211.
- Audo I, Bujakowska K, Mohand-Said S, et al. A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family. Mol Vis. 2011;17(178):1598-1606.
- Mburu P, Mustapha M, Varela A, et al. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet. 2003;34(4):421-428.
- Tlili A, Charfedine I, Lahmar I, et al. Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss. Hum Mutat. 2005;25(5):503-503.