Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome

Table 3 Comparison of demographic and molecular findings in PRLTS patients with TWNK mutation

Family # and origin	Consanguinity	PRLTS	Reference sequence number	Mutation cDNA level	Mutation protein level	Karyotype	Reference
1. Japanese	N	Two sisters	rs556445621	c.1172G>A	p.Arg391His	46,XX	[6]
1. Japanese	N	Two sisters	rs672601360	c.1754A>G	p.Asn585Ser	46,XX	[6]
2. American with European ancestry	N	Two sisters	rs672601361	c.1321T>G	p.Trp441Gly	46,XX	[6]
2. American with European ancestry	N	Two sisters	rs369588002	c.1519G>A	p.Val507Ile	46,XX	[6]
3. Norwegian	N	One female	rs770917763	c.968G>A	p.Arg323Gln	46,XX	[10]
3. Norwegian	N	One female	rs863223921	c.1196A>G	p.Asn399Ser	46,XX	[10]
4. Moroccan	Y	Two sisters and brother	rs764669712	c.793C>T	p.Arg265Cys	n.a.	[13]
4. Moroccan	Y	Two sisters and brother	rs764669712	c.793C>T	p.Arg265Cys	n.a.	[13]
5. Polish	N	Two sisters	rs863223921	c.1196A>G	p.Asn399Ser	46,XX	Present study
5. Polish	N	Two sisters	rs141315771	c.1802G>A	p.Arg601Gln	46,XX	Present study

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