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

Table 2 Genotype and phenotype summary of known EYA4 mutations

Family	Age of onset	Mutation		Protein domain	Exon	Tonal audiometric curves	Reference
Family	Age of onset	Amino acid	Nucleotide	Protein domain	Exon	Tonal audiometric curves	Reference
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

ISSN: 1479-5876