International journal of pediatric otorhinolaryngology
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Int. J. Pediatr. Otorhinolaryngol. · Aug 2017
A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family.
We aimed to investigate the genetic causes of hearing loss in a Chinese proband with autosomal recessive congenital deafness. ⋯ This study demonstrates that the novel mutation c.3847_3848insTCTG (p. N1285LfsX24) in compound heterozygosity with c.2239_2240delAG in the MYO7A gene is the main cause of USH1 in the proband. Our study expands the mutational spectrum of MYO7A and provides a foundation for further investigations elucidating the MYO7A-related mechanisms of USH1.
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Int. J. Pediatr. Otorhinolaryngol. · Aug 2017
Speech-evoked auditory brainstem responses in children with hearing loss.
The main objective of the present study was to investigate subcortical auditory processing in children with sensorineural hearing loss. ⋯ Results obtained from the speech-evoked ABRs suggest that children with a mild to moderately-severe sensorineural hearing loss have a specific pattern of subcortical auditory processing. Our results show differences for the speech-evoked ABRs in normal hearing children compared to hearing-impaired children. These results add to the body of the literature on how children with hearing loss process speech at the brainstem level.