OBJECTIVE: To investigate characteristics of molecular etiology of children with profound sensorineural hearing loss in Hubei province, and to provide reference for deafness treatment and genetic counseling. METHOD: Three hundred and six children with profound sensorineural hearing loss in Hubei province were enrolled, their genomic DNA were extracted from peripheral blood and a deafness gene test chip was used to screen nine hot spot mutation in the GJB2, GJB3, SLC26A4, and mitochondria 12SrRNA gene. All patients with SLC26A4 gene mutation were given temporal bone CT scan. RESULT: One hundred and thirty-two (43.14%) out of 306 children were found carrying at least one pathogenic gene mutation. The mutation rates of GJB2, SLC26A4 and mitochondria DNA 12SrRNA gene were 29.41% (90/306), 13.72% (42/306) and 0.65% (2/306), respectively. None out of 306 children was detected GJB3 gene mutation. Thirty-six patients carrying SLC26A4 gene mutation were detected enlarged vestibular aqueduct by CT scan. CONCLUSION Mutations of GJB2 and SLC26A4 gene are two major pathogenic gene for genetic hearing loss in children. 235delC mutation is the main mutation type, followed by IVS7-2A> G mutation type. The screening of SLC26A4 gene common mutations contribute to the diagnosis of enlarged vestibular aqueduct syndrome.
Adolescent ; Child ; Child, Preschool ; China ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; Deafness ; genetics ; Female ; Genetic Testing ; Humans ; Infant ; Male ; Membrane Transport Proteins ; genetics ; Mutation ; Oligonucleotide Array Sequence Analysis ; Sulfate Transporters

OBJECTIVE: To investigate the character of 80 Hz auditory steady-state evoked potentials in auditory neuropathy (AN) patients and the correlation between it and ABR. METHOD: The 80 Hz auditory steady-state evoked potentials and ABR to 95 dBnHL (1000 Hz) tone-pip stimuli were recorded from the scalp in patients with AN and normal subjects. The difference of the waveforms between AN ears and normal ears was compared. RESULT: In 85.4% AN ears the 80 Hz auditory steady-state evoked potentials and ABR were simultaneously present. Their amplitudes were low or extremely low. The I and III waves of ABR were absent. The 80 Hz auditory steady-state evoked potentials and ABR were simultaneously absent, in 14.6% AN ears, but were present in all normal ears. CONCLUSION The 80 Hz auditory steady-state evoked potentials and the V wave of ABR may come from the same brainstem sources.
Adolescent ; Adult ; Audiometry, Evoked Response ; Audiometry, Pure-Tone ; Auditory Threshold ; Case-Control Studies ; Child ; Child, Preschool ; Evoked Potentials, Auditory, Brain Stem ; Female ; Humans ; Male ; Vestibulocochlear Nerve Diseases ; physiopathology ; Young Adult