Monogenic hearing loss

Gene: CLRN2

I don't know

Comment on list classification: Promoting this gene from grey to amber as there is one extended family reported with variants in this gene, plus some supporting functional data.

Created: 9 Jun 2021, 4:22 p.m. | Last Modified: 9 Jun 2021, 4:22 p.m.

Panel Version: 2.168

Provisionally associated with ?Deafness, autosomal recessive 117 #619174 (AR) in OMIM.

As Zornitza Stark reports PMID: 33496845 (Vona et al 2021) describes an extended Iranian consanguineous family with a homozygous missense variant in CLRN2 that segregates with non-syndromic hearing loss in the family. Identified by homozygosity mapping and then exome sequencing. in vitro RNA splicing assays demonstrate an effect on splicing and functional studies support a role in hearing.

Created: 9 Jun 2021, 4:21 p.m. | Last Modified: 9 Jun 2021, 4:21 p.m.

Panel Version: 2.166

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 117, OMIM:619174; deafness, autosomal recessive 117, MONDO:0030905

Publications

• 33496845

I don't know

Missense variant segregates with non-syndromic hearing loss in 3 members of a consanguineous family, two from one nuclear family and one from another. The variant was also shown to result in some transcripts being abnormally spliced, resulting in a premature stop codon.

Functional studies in zebrafish and mice show the gene plays an essential role in normal organization and maintenance of the auditory hair bundles, and for hearing function.

Rated Amber due to supporting functional studies in mice.
Sources: Literature

Created: 1 Feb 2021, 10:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Non-syndromic hearing loss

Publications

• 33496845