Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear.
A novel TECTA mutation (c.5331G>A) was identified affecting alpha-tectorin just N-terminally of the zona pellucida domain in a Dutch family with nonsyndromic autosomal dominant sensorineural hearing impairment. The present mutation is clearly associated with a flat-threshold type of hearing impairment. Intriguingly, our results demonstrated that the present TECTA mutation had a significant protective effect against presbyacusis. Substantial protection against presbyacusis is a novel finding in a family with autosomal dominant hearing impairment.
de Heer
A R
AR
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, NL-6500 HB Nijmegen, The Netherlands. A.deHeer@kno.umcn.nl
Pauw
R J
RJ
Huygen
P L M
PL
Collin
R W J
RW
Kremer
H
H
Cremers
C W R J
CW
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001299:Audiometry; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D058851:GPI-Linked Proteins; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D011304:Presbycusis / Q000235:genetics*; D055815:Young Adult
D016326:Extracellular Matrix Proteins; D058851:GPI-Linked Proteins; D008562:Membrane Glycoproteins; C491350:TECTA protein, human