[From gene to disease; DFNA8/12, an autosomal dominant inherited bowl-shaped sensorineural hearing impairment].
An autosomal dominant inherited disorder known as DFNA8/12 causes mild-to-moderate/severe mid-frequency or mild-to-severe progressive high-frequency sensorineural hearing impairment. The causative gene, TECTA, encodes alpha-tectorin, the most important non-collagenous component of the tectorial membrane in the cochlea and the otolith membrane in the maculae of the vestibular system. Mutations in the zona pellucida domain of alpha-tectorin cause mid-frequency hearing impairment, whereas mutations in the zonadhesin domain cause progressive high-frequency hearing impairment. The intact hearing in the low and high frequencies may prohibit successful correction with a hearing aid.
Cremers
C W R J
CW
Universitair Medisch Centrum St Radboud, afd. Keel-, Neus- en Oorheelkunde, huispostnr. 911, Postbus 9101, 6500 HB Nijmegen. c.cremers@kno.umcn.nl
Plantinga
R F
RF
Kremer
H
H
D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D058851:GPI-Linked Proteins; D005799:Genes, Dominant; D008040:Genetic Linkage; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree
D016326:Extracellular Matrix Proteins; D058851:GPI-Linked Proteins; D008562:Membrane Glycoproteins; C491350:TECTA protein, human