A Novel Missense WFS1 Variant: Expanding the Mutational Spectrum Associated with Nonsyndromic Low-Frequency Sensorineural Hearing Loss

Table 3

WFS1 pathogenic variants found in patients with nonsyndromic low-frequency sensorineural hearing loss.

Origin	Exon	Nucleotide change	Protein change	Type of variant	Inheritance pattern	Reference
Portuguese	E-5	c.511G > A	p.Asp171Asn	Missense	AD	[19]
German	E-5	c.577A > C	p.Lys193Gln	Missense	Sporadic	[20]
Japanese	E-8	c.908 T > C	p.Leu303Pro	Missense	AD	[15]
Japanese	E-8	c.923C > G	p.Ser308Cys	Missense	AD	[15]
Japanese	E-8	c.1480G > A	p.Gly494Ser	Missense	AD	[7]
Chinese	E-8	c.1846G > T	p.Ala616Ser	Missense	AD	[21]
Japanese	E-8	c.1901A > C	p.Lys634Thr	Missense	AD	[22]
Chinese	E-8	c.1957C > T	p.Arg653Cys	Missense	AD	[23]
Japanese	E-8	c.1982A > G	p.Asn661Ser	Missense	AD	[15]
Taiwanese	E-8	c.2005 T > C	p.Tyr669His	Missense	AD	[24]
Chinese	E-8	c.2020G > T	p.Gly674Trp	Missense	AD	[4]
Dutch	E-8	c.2021G > A	p.Gly674Glu	Missense	AD	[20]
Dutch	E-8	c.2021G > T	p.Gly674Val	Missense	AD	[20]
Chinese	E-8	c.2036_2038delAGG	p.Glu680del	In-frame indel	AD	[23]
Japanese	E-8	c.2045A > G	p.Asn682Ser	Missense	Sporadic	[15]
American	E-8	c.2054G > C	p.Arg685Pro	Missense	AD	[25]
Chinese	E-8	c.2086C > T	p.His696Tyr	Missense	AD	[26]
Dutch	E-8	c.2096C > T	p.Thr699Met	Missense	AD	[9]
Chinese	E-8	c.2108G > A	p.Arg703His	Missense	AD	[26]
German	E-8	c.2115G > C	p.Lys705Asn	Missense	AD	[27]
Canadian	E-8	c.2146G > A	p.Ala716Thr	Missense	AD	[9]
Dutch	E-8	c.2300_2302delTCA	p.delIle767	Deletion	AD	[20]
Swiss	E-8	c.2311G > C	p.Asp771His	Missense	AD	[28]
American	E-8	c.2335G > A	p.Val779Met	Missense	AD	[9]
UK	E-8	c.2419A > C	p.Ser807Arg	Missense	AD	[20]
American	E-8	c.2486 T > C	p.Leu829Pro	Missense	AD	[9]
US	E-8	c.2492G > A	p.Gly831Asp	Missense	AD	[20]
Japanese	E-8	c.2507A > C	p.Lys836Thr	Missense	AD	[29]
Dutch	E-8	c.2508G > C	p.Lys836Asn	Missense	AD	[30]
Japanese	E-8	c.2530G > A	p.Ala844Thr	Missense	AD	[31]
American	E-8	c.2576G > C	p.Arg859Pro	Missense	AD	[28]
American	E-8	c.2576G > A	p.Arg859Gln	Missense	AD	[32]
Dane	E-8	c.2590G > A	p.Glu864Lys	Missense	AD	[33]
Chinese	E-8	c.2591A > G	p.Glu864Gly	Missense	AD	[34]