Table 1.

Summary of clinical data for the 15 ARNSHL patients from 14 unrelated families with MYO15A variants

Family ID	Gender	Age of test (year)	Zygosity	Nucleotide Change (NM_016239.3)	Amino Acid Change (NP_057323.3)	Protein Domain	Hearing impairment phenotype			Method of hearing rehabilitation
							Age of onset (year)	Severity (PTA)	Type of audiometry
139,408	M	23	Hom	c.6479C > T	p.Pro2160Leu	MyTH4 1	Congenital	Profound	Flat	CI(L)
1,507,361	M	3	Het	c.6796G > A	p.Val2266Met	Other	Congenital	Profound	Flat	HA(Bi)
				c.8771G > A	p.Arg2924His	SH3
1,507,382	M	6	Het	c.4666G > A	p.Ala1556Thr	Motor	Pre-lingual(5 yr) progressive	Severe / residual hearing of low frequencies	Down-sloping	HA(Bi)
				c.6177 + 1G > T	Splice site	Other
1,606,852	M	2	Het	c.7708_7709insCA	p.Gln2571Hisfs*35	Other	Congenital	Profound	Flat	Nothing
				c.5977C > T	p.Arg1993Trp	Other
1,607,486–1	F	62	Het	c.4823C > A	p.Ala1608Glu	Motor	Congenital	Profound	Flat	Nothing
				c.7396-1G > A	Splice site	Other
1,607,486–2	M	66	Het	c.4823C > A	p.Ala1608Glu	Motor	Congenital	Profound	Flat	Nothing
				c.7396-1G > A	Splice site	Other
1,607,107	F	1	Het	c.5507 T > C	p.Leu1836Pro	Motor	Congenital	Profound	Flat	CI(R)
				c.8324G > A	p.Arg2775His	FERM 1
1,607,545	F	3	Het	c.855dupT	p.Pro286Serfs*15	N-terminal	Congenital progressive	Severe /residual hearing of low frequencies	Down-sloping	HA(Bi)
				c.3524dupA	p.Ser1176Valfs*14	N-terminal
				c.7822G > A	p.Asp2608Asn	Other
1,607,551	M	30	Het	c.4441 T > C	p.Ser1481Pro	Motor	Congenital	Severe	Flat	HA(Bi)
				c.8033_8056del	p.Asn2678fs	Other
1,707,735	M	5	Het	c.3742C > T	p.Arg1248Trp	Motor	Congenital	Severe	Flat	HA(Bi)
				c.10251_10253delCTT	p.Phe3420del	FERM 2
1,707,757	F	6	Het	c.5692C > T	P.Arg1898*	Motor	Congenital	Severe	Flat	HA(Bi)
				c.7396-1G > A	Splice site	Other
1,707,773	F	3	Het	c.4252G > A	p.Gly1418Arg	Motor	Congenital	Profound	Flat	CI(R)
				c.4596 + 1G > A	Splice site	Motor
1,897,966	M	6	Het	c.5964 + 3G > A	Splice site	Other	Congenital	Profound	Flat	CI(R)
				c.8791del	p.Trp2931Glyfs*103	SH3
1,897,999	F	28	Het	c.4747 T > C	p.Ser1583Pro	Motor	Congenital	Profound	Flat	Nothing
				c.10502 T > A	p.Leu3501Glu	Other
1,801,948	M	16	Het	c.4597-2A > G	Splice site	Motor	Congenital	Profound	Flat	HA(Bi)
				c.8077del	p.Leu2693Cysfs*45	FERM 1
				c.10420A > G	p.Ser3474Glya	FERM 2

Abbreviations: L Left, R Right, Bi Bilateral, CI Cochlear Implant, HA Hearing aid, F Female, M Male

^a The pathogenicity of the Ser3474Gly variant is quite problematic due to the finding of two homozygotes with an unknown phenotype in the ExAC database, and because it has been reported as not pathogenic in a Korean DFNB3 family