Date Panel Item Activity
1 actions
Auditory Neuropathy Spectrum Disorder v1.9 CABP2 Barbara Vona gene: CABP2 was added
gene: CABP2 was added to Auditory Neuropathy Spectrum Disorder. Sources: Literature
Mode of inheritance for gene: CABP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CABP2 were set to PMID: 28183797
Phenotypes for gene: CABP2 were set to Auditory neuropathy; auditory synaptopathy
Penetrance for gene: CABP2 were set to Complete
Mode of pathogenicity for gene: CABP2 was set to Other
Review for gene: CABP2 was set to RED
gene: CABP2 was marked as current diagnostic
Added comment: Variants in CABP2 have been reported to cause autosomal recessive non-syndromic hearing loss (DFNB93). In-depth functional studies and deep phenotyping of one of the originally published families with a homozygous loss-of-function variant (NM_016366.3:c.466G>T (p.Glu156Ter)/NM_001318496.2:c.484G>T, p.(Glu162Ter)); PMID: 22981119) presenting mid-frequency, moderate-to-severe hearing loss, uncovered transient evoked otoacoustic emissions (TEOAEs) in a 4 year-old affected individual (PMID: 28183797). The authors suggested, at least initially, that outer hair cell function is spared, thus showing the first individual with auditory synaptopathy/auditory neuropathy. A mouse model with a deletion of exons 3-4 of Cabp2 showed reduced auditory brainstem response recordings and present distortion product otoacoustic emissions. The lesion was identified to be most likely at the inner hair cell synapses, compatible with an auditory synaptopathy/auditory neuropathy. Although there are not abundant examples of CABP2 patients with auditory synapthpathy/auditory neuropathy in the literature, biallelic variants in CABP2 undoubtedly cause hearing impairment that should be further phenotyped in patients through OAE testing. Replication of this specific type of hearing deficit is needed; therefore, CABP2 merits being added to the Auditory Neuropathy gene panel.
Sources: Literature