A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family

The parents were non-consanguineous and the proband had no history of noise exposure, ototoxic drug usage, external ear trauma, birth injury, hypoxia or asphyxia, or jaundice. In vitro functional tests showed that c.2002A>G affected splicing (ACMG PS3_moderate). [...]according to the ACMG genetic variation classification criteria and published guidelines,[3,4] the TMC1 c.2002A>G variant is likely pathogenic. [6] To conclude, we report a novel variant of TMC1 in a Chinese family; we sequenced the 129 known deafness genes. [...]we conclude that the homozygous variant of the TMC1 gene was the cause of deafness in the proband; this further expands the mutational spectrum.