Auditory neuropathy is a rare form of deafness characterized by an absent or abnormal auditory brainstem response with preservation of outer hair cell function. DIAPH3 has been identified as the gene responsible for autosomal dominant nonsyndromic auditory neuropathy. Recently, it has been reported that an autosomal recessive auditory neuropathy and optic atrophy (ANOA) is caused by mutations in the FDXR gene.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
10 Diseases of the ear or mastoid process
Disorders with hearing impairment
AB57 Auditory synaptopathy or neuropathy
H02339 Auditory neuropathy
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H02339 Auditory neuropathy
nt06539 Cytoskeleton in muscle cells
H02339 Auditory neuropathy
Jang MW, Oh DY, Yi E, Liu X, Ling J, Kim N, Sharma K, Kim TY, Lee S, Kim AR, Kim MY, Kim MA, Lee M, Han JH, Han JJ, Park HR, Kim BJ, Lee SY, Woo DH, Oh J, Oh SJ, Du T, Koo JW, Oh SH, Shin HW, Seong MW, Lee KY, Kim UK, Shin JB, Sang S, Cai X, Mei L, He C, Blanton SH, Chen ZY, Chen H, Liu X, Nourbakhsh A, Huang Z, Kang KW, Park WY, Feng Y, Lee CJ, Choi BY
Title
A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.
Paul A, Drecourt A, Petit F, Deguine DD, Vasnier C, Oufadem M, Masson C, Bonnet C, Masmoudi S, Mosnier I, Mahieu L, Bouccara D, Kaplan J, Challe G, Domange C, Mochel F, Sterkers O, Gerber S, Nitschke P, Bole-Feysot C, Jonard L, Gherbi S, Mercati O, Ben Aissa I, Lyonnet S, Rotig A, Delahodde A, Marlin S
Title
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
