title: [Auditory neuropathy due to the Q829X mutation in the gene encoding otoferlin (OTOF) in an infant screened for newborn hearing impairment].
abstract: 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.
authors.affiliation: Servicio de ORL, Hospital Universitario Marqués de Valdecilla, Santander.
authors.forename: J
authors.initials: J
authors.lastname: Gallo-Terán
authors.forename: C
authors.initials: C
authors.lastname: Morales-Angulo
authors.forename: N
authors.initials: N
authors.lastname: Sánchez
authors.forename: M
authors.initials: M
authors.lastname: Manrique
authors.forename: M
authors.initials: M
authors.lastname: Rodríguez-Ballesteros
authors.forename: M A
authors.initials: MA
authors.lastname: Moreno-Pelayo
authors.forename: E
authors.initials: E
authors.lastname: Moreno
authors.forename: I
authors.initials: I
authors.lastname: del Castillo
mesh_terms: 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*
chemical_list: D008565:Membrane Proteins; C118457:OTOF protein, human