[Auditory neuropathy due to the Q829X mutation in the gene encoding otoferlin (OTOF) in an infant screened for newborn hearing impairment].
We report an infant with auditory neuropathy secondary to the Q829X mutation in the gene encoding otoferlin (OTOF). Included in a universal newborn hearing screening program, the subject passed the otoacoustic emission (OAEs) test. Given that the infant had a familial history of deafness auditory brainstem response (ABR) testing was performed, revealing a profound hearing impairment. The genetic study confirmed that the subject was homozygous for the Q829X mutation in OTOF. The patient underwent a cochlear implant, obtaining satisfactory results. The moderately high prevalence of this mutation in the Spanish population could produce a significant false negative rate in newborn hearing screening programs using OAEs.
Gallo-Terán
J
J
Servicio de ORL, Hospital Universitario Marqués de Valdecilla, Santander.
Morales-Angulo
C
C
Sánchez
N
N
Manrique
M
M
Rodríguez-Ballesteros
M
M
Moreno-Pelayo
M A
MA
Moreno
E
E
del Castillo
I
I
D003056:Cochlear Nerve; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D000160:Vestibulocochlear Nerve Diseases / Q000235:genetics*
D008565:Membrane Proteins; C118457:OTOF protein, human