Monogenic hearing loss

Gene: GRAP

Red List (low evidence)

As reviewed by Barbara Vona, two unrelated families were reported with the same homozygous missense variant. There is some functional data available as well.

This gene has been associated with relevant phenotype in OMIM (MIM #618456).

Created: 12 Apr 2024, 12:54 p.m. | Last Modified: 12 Apr 2024, 12:54 p.m.

Panel Version: 4.36

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 114, OMIM:618456

Red List (low evidence)

Two consanguineous families were identified with the same c.311A>T, p.(Gln104Leu) homozygous variant in GRAP. The affected individuals in both families reported congenital profound sensorineural hearing loss. GRAP is expressed in the mouse inner ear in the neuronal fibers innervating cochlear and utricular auditory hair cells. In the fly, it is expressed in the hearing organ, called the Johnston's organ, in cells that include the mechanosensory neurons. Transgenic flies with the human variant showed loss of protein function in vivo. This gene has been assigned to the DFNB114 locus in OMIM (OMIM: #618456).
Sources: Literature

Created: 3 Aug 2022, 11:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Non-syndromic hearing loss

Publications

• PMID: 30610177