A novel splice site mutation in EYA4 causes DFNA10 hearing loss (Am J Med Genet 143(14): 1599–1604)

A novel splice site mutation in EYA4 cau

A novel splice site mutation in EYA4 causes DFNA10 hearing loss

✍ Michael S. Hildebrand; David Coman; Tao Yang; R.J. McKinlay Gardner; Elizabeth R 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 167 KB 👁 2 views

## Abstract Nonsyndromic autosomal dominant sensorineural hearing loss (SNHL) at the DFNA10 locus was described in two families in 2001. Causative mutations that affect the EyaHR domain of the ‘Eyes absent 4’ (EYA4) protein were identified. We report on the clinical and genetic analyses of an Austr