High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population.

In conclusion, we confirmed that AIFM1 is the primary related gene among late-onset AN cases, and the most common recurrent variant is p.Leu344Phe. Except for the X-linked recessive inheritance pattern, the X-linked dominant inheritance pattern is another probability of AIFM1-related AN, with females affected. Phenotypical features of AIFM1-related AN suggested that auditory dyssynchrony progressively worsened over time.
PMID: 32684920 [PubMed - in process]

Source: Neural Plasticity - July 22, 2020 Category: Neurology Authors: Wang H, Bing D, Li J, Xie L, Xiong F, Lan L, Wang D, Guan J, Wang Q Tags: Neural Plast Source Type: research