[Distribution of G6PD mutations and phenotypic characteristics in individuals with auditory neuropathy]

The data of 298 patients with auditory neuropathy (AN) who underwent genetic testing in Chinese PLA General Hospital from August 2015 to June 2024 were retrospectively reviewed, and 12 cases (4.0%) carried pathogenic glucose-6-phosphate dehydrogenase (G6PD) gene mutations were enrolled. Among them, 11 patients were from Guangxi. There were 11 cases (9 males and 2 females) that showed symptoms of G6PD deficiency, and 10 cases had neonatal hyperbilirubinemia. The audiological characteristics of the 12 patients were typical AN manifestations, with the age of onset of hearing loss of 0 (0, 1) month, and 11 cases were classified as infant AN. Genetic analysis of the 12 patients identified four G6PD mutation, with the c.1388G>A pathogenic mutation being the most prevalent (8/12). Additionally, three deafness-associated genes, including GJB2, AIFM1, and STRC were identified. The current study indicates that there are regional differences in the distribution of G6PD gene variation in AN, predominantly in the AN population of Guangxi. The potential mechanisms of hearing loss may be related to neonatal hyperbilirubinemia, genetic factors and others.