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

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

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]
rs672601360 c.1754A>G p.Asn585Ser
2. American with European ancestry N Two sisters rs672601361 c.1321T>G p.Trp441Gly 46,XX [6]
rs369588002 c.1519G>A p.Val507Ile
3. Norwegian N One female rs770917763 c.968G>A p.Arg323Gln 46,XX [10]
rs863223921 c.1196A>G p.Asn399Ser
4. Moroccan Y Two sisters and brother rs764669712 c.793C>T p.Arg265Cys n.a. [13]
rs764669712 c.793C>T p.Arg265Cys
5. Polish N Two sisters rs863223921 c.1196A>G p.Asn399Ser 46,XX Present study
rs141315771 c.1802G>A p.Arg601Gln
  1. N no, Y yes, n.a. no data available