Van gen naar ziekte; niet-syndromaal, autosomaal dominant overervend, laagfrequent, perceptief gehoorverlies (DFNA6/14)

- DFNA6/14 is a nonsyndromic, autosomal dominant form of hearing impairment that is characterised by low-frequency sensorineural hearing loss, which in some cases is progressive. It is the only known form of dominantly inherited low-frequency hearing impairment in the Netherlands. It is caused by heterozygous non-inactivating mutations in the WFS1 gene, which are also present in the Wolfram or DIDMOAD syndrome.