Impaired interactions between mouse Eya1 harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins

Mutation screening of the EYA1, SIX1, an

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations

✍ Pauline Krug; Vincent Morinière; Sandrine Marlin; Valérie Koubi; Heinz D. Gabrie 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 184 KB 👁 1 views

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial, ear, and renal anomalies. Over 80 mutations in EYA1 have been reported in BOR. Mutations in SIX1, a DNA binding protein that associates with EYA1, have been reported less frequently. One group has recentl