Monogenic hearing loss

Gene: WBP2

I don't know

Comment on list classification: Changing the rating from grey to Amber. 2 cases plus mouse model but all from one paper. No further evidence since 2016.

Created: 8 Sep 2020, 8:56 p.m. | Last Modified: 8 Sep 2020, 8:56 p.m.

Panel Version: 2.54

Associated with Deafness, autosomal recessive 107 #617639 (AR) in OMIM.

PMID: 26881968 - Buniello et al 2016 - studied hearing in Wbp2 knock-out mice and found progressive high‐frequency hearing loss from 4 weeks of age. They show this is associated with reduced expression of Esr1, Esr2 and Pgr in the cochlea and disruption of expression of key post‐synaptic proteins. Following screening of WBP2 in 8,087 deaf probands and 1,823 unaffected controls in China using targeted next‐generation sequencing, they also identified two unrelated cases of children (5 years and 9 years old) with severe to profound prelingual deafness. Both were compound heterozygous for point mutations resulting in amino acid changes in the WBP2 gene. Each parent was a heterozgyous carrier.

Created: 8 Sep 2020, 8:55 p.m. | Last Modified: 8 Sep 2020, 8:55 p.m.

Panel Version: 2.53

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 107 617639

Publications

• 26881968

I don't know

Two unrelated families identified in a large cohort; supportive animal model data.
Sources: Expert list

Created: 2 Jan 2020, 6 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 107, MIM#617639

Publications

• 26881968