A novel CLRN2 variant: expanding the mutation spectrum and its critical role in isolated hearing impairment.

Abstract excerpt

BACKGROUND: Biallelic variants in the CLRN2 gene have been reported to cause autosomal recessive profound hearing impairment in humans. CLRN2 belongs to the clarin gene family that encodes a tetraspan protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in...

Topics

• Humans
• Male
• Female
• Pedigree
• Membrane Proteins
• Hearing Loss
• Mutation