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Table 2 Genotype and phenotype summary of known EYA4 mutations

From: A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness

Family Age of onset Mutation Protein domain Exon Tonal audiometric curves Reference
Amino acid Nucleotide
America 10-50 c.1468insAA p.342 fs eyaHR 12 valley-flat Wayne (2001) [3,5,8]
Belgium 0-40 c.2200C > T p.R587X eyaHR 20 valley-flat Wayne (2001) [5]
Hungary -- c.1558insTTTG p.372 fs eyaHR 13 valley-flat Pfister (2002) [9]
America 10-50 c.1490insAA p.349 fs eyaHR 12 valley-flat Makishima (2007) [10]
Australia 6-40 c.1282-12 T > A p.426 fs eyaHR Before exon 15 valley-flat Hildebrand (2007) [11]
Chinese 8-38 c.T1301A p.I411k eyaHR 15 valley-flat Tan M (2014) [12]
Chinese 20-40 c.544_545insA p.F221X eyaHR 8 flat or sloping Our study