[Evaluation of a family with sensorineural hearing loss due to the Q829X mutation in the OTOF gene].
OBJECTIVE
To determine the features of hearing loss due to the Q829X mutation in the OTOF gene, the third most frequent mutation causing prelingual deafness reported so far in the Spanish population.


METHODS
We carried out genetic characterisation of 16 individuals from a consanguineous family from Cantabria, in which 4 members were affected by deafness.


RESULTS
All 4 hearing impaired individuals were homozygous for the Q829X mutation in the OTOF gene. The auditory defect was a profound, bilateral, symmetrical, sensorineural hearing loss of prelingual onset. No other clinical alterations were observed. Individuals heterozygous for the Q829X mutation were unaffected.


CONCLUSIONS
The Q829X mutation in the OTOF gene causes severe to profound sensorineural hearing loss of prelingual onset. Early detection of individuals carrying this mutation is important for the application of palliative treatment and special education.
Gallo-Terán
J
J
Servicio de ORL, Hospital Universitario Marqués de Valdecilla, Santander.
Megía López
R
R
Morales-Angulo
C
C
del Castillo
I
I
Moreno-Pelayo
M A
MA
Mazón Gutiérrez
A
A
Moreno Herrero
F
F
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree
D008565:Membrane Proteins; C118457:OTOF protein, human