Article
Lack of collagen α6(IV) chain in mice does not cause severe-to-profound hearing loss or cochlear malformation, a distinct phenotype from nonsyndromic hearing loss with COL4A6 missense mutation.
PloS one - 1 Jan 2021
Tang Shaoying, Yonezawa Tomoko, Maeda Yukihide, Ono Mitsuaki, Maeba Takahiro, Miyoshi Toru, Momota Ryusuke, Tomono Yasuko, Oohashi Toshitaka
Abstract excerpt
Congenital hearing loss affects 1 in every 1000 births, with genetic mutations contributing to more than 50% of all cases. X-linked nonsyndromic hereditary hearing loss is associated with six loci (DFNX1-6) and five genes. Recently, the missense mutation (c.1771G>A, p.Gly591Ser) in COL4A6, encoding the basement membrane (BM) collagen α6(IV) chain, was shown to be associated with X-linked congenital nonsyndromic...
Topics
- Animals
- Auditory Threshold
- Cochlea
- Collagen Type IV
- Deafness
- Disease Models, Animal
- Humans
- Male
- Mice
- Mice, Inbred C57BL