Journal article

Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.

M Kamarinos, J McGill, M Lynch, H Dahl

Hum Mutat | Wiley | Published : 2001


Hereditary hearing loss is a heterogeneous condition at both the genetic and clinical levels. We have recruited an Australian family with dominant sensorineural nonsyndromic late onset hearing loss. The hearing loss typically begins in the second or third decade of life as a high frequency loss which progresses to a severe to profound loss by the sixth to seventh decade. All affected family members presented with concomitant vestibular dysfunction. Vertigo is a less common feature. The causative gene in this family was identified as COCH which lies within the DFNA9 interval. We identified a new point mutation, 253 T>A, in the coding region of the COCH gene, changing the isoleucine 109 to an ..

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University of Melbourne Researchers