Cécile Huybrechts

Learn More
We report that mutation of COL11A2 causes deafness previously mapped to the DFNA13 locus on chromosome 6p. We found two families (one American and one Dutch) with autosomal dominant, non-syndromic hearing loss to have mutations in COL11A2 that are predicted to affect the triple-helix domain of the collagen protein. In both families, deafness is(More)
OBJECTIVE To study nonsyndromic progressive sensorineural hearing impairment in patients with a COL11A2 mutation (DFNA13) in a Dutch kindred. STUDY DESIGN Survey. SETTING Department of otorhinolaryngology of a university hospital. PATIENTS Twenty-one living members of a Dutch family (150 relatives in 5 generations; 49 were studied) with autosomal(More)
  • 1