NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.

Hearing loss is a frequent sensory impairment in humans and genetic factors account for an elevated fraction of the cases. We have investigated a large family of five generations, with 15 reported individuals presenting non-syndromic, sensorineural, bilateral and progressive hearing loss, segregating as an autosomal dominant condition. Linkage analysis, using SNP-array and selected microsatellites, identified a region of near 13 cM in chromosome 20 as the best candidate to harbour the causative mutation.

Changes in click characteristics during ABR recording.

Unlabelled: Manipulation of auditory stimuli affect the ABR evoked potentials and aid the diagnosis, particularly in auditory neuropathy patients. Some patients with auditory neuropathy lose evoked otoacoustic emissions over time; in these cases, comparing responses to rarefaction and condensation clicks, and decreasing the stimulus rate can show an extended cochlear microphonism or yield an improved electric potential record.

Aim: To analyze the effect of these click manipulations on the records of potentials of patients with hearing loss as a form of improving the diagnosis.

Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?

Hearing impairment is frequently found associated with pigmentary disorders in many syndromes. However, total oculocutaneous albinism (OCA) associated with deafness has been described only once, by Ziprkowski and Adam (Arch Dermatol 89:151-155, 1964) in an inbred family. A syndrome associating deafness and OCA was suggested by the authors, but two separate recessive genes segregating in this inbred group were also proposed later by Fraser (OMIM # 220900).