Neuropatia auditiva secundaria a la mutación Q829X en el gen de la otoferlina (OTOF) en un lactante sometido a screening neonatal de hipoacusia.

Autores de IDIVAL

• Jaime Gallo Terán

  Autor

• Carmelo Morales Ángulo

  Autor

Autores ajenos al IDIVAL

• Sánchez N
• Manrique M
• Rodríguez-Ballesteros M
• Moreno-Pelayo MA
• Moreno E
• del Castillo I

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.