OTOF


Also found in: Acronyms.

OTOF

Notation for the gene for DFNB9.
Farlex Partner Medical Dictionary © Farlex 2012
References in periodicals archive ?
Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.
Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy.
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
Open array data of the family number 909 who showed segregation in the OTOF gene Family 909-101/Healthy 909-103/Hearing 909-301/Healthy number-Subject sibling loss father number/Phenotype rs11674089 AG GG AG rs2280516 GG GG GG rs2272069 No amplification GG CG observed rs869440 No amplification AA AA observed rs939817 CT CC CT rs6746918 AA GG AA rs1879760 AA AA AA rs4665874 CC CC CC rs6547103 GG GG GG rs13029128 GT GG GT rs1011108 CT CC CT rs939815 CC CC CC Table 2c.
Mutaciones en el gen oToF son responsables del 3,5% de las sorderas no sindromicas en poblacion espanola[8, 11, 22] y del 2,3% en paises de oriente, como Pakistan, entre otras poblaciones[23].
Este es el primer reporte sobre el gen oToF en poblacion colombiana, de la cual se determino una frecuencia del 1,8% de la mutacion p.Q829X en la poblacion con sordera no sindromica analizada.
Esto resulta diferente a lo reportado en la poblacion espanola por Rodriguez y cols., quienes reportan especial "homogeneidad", ya que todos los individuos positivos para cualquier mutacion en oToF expresaron exclusivamente sordera profunda bilateral[11, 22, 27].
A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised oToF long isoforms.
A mutation in oToF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
Q829X, a novel mutation in the gene encoding otoferlin (oToF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.
Auditory neuropathy in patients carrying mutations in the otofer lin gene (oToF).