Table 3 Reported TWNK Variants in PRLTS Cases
From: Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report
Sex | Ancestry | Genetic variants TWNK (NM_021830) | |
|---|---|---|---|
Our Patient | Female | Asian | c.561_563dupTGA (p.Asp188dup) + c.1909 C > T (p.Arg637Trp) |
Gotta et al. 2020 [9] | Female | Italian | c.743T > C (p.Phe248Ser) + c.1519G > A (p.Val507Ile) |
Kume at el. 2020 [10] | Female | Japanese | homozygous c.1358G > A (p. Arg453Gln) |
Dominguez-Ruiz et al. 2019 [11] | Female | Spanish | c.85 C > T (p.Arg29*) + c.1886 C > T (p.Ser629Phe) |
Dominguez-Ruiz et al. 2019 [11] | Female | Spanish | c.85 C > T (p.Arg29*) + c.1886 C > T (p.Ser629Phe) |
Dominguez-Ruiz et al. 2019 [11] | Male | Spanish | c.85 C > T (p.Arg29*) + c.1886 C > T (p.Ser629Phe) |
Fekete et al. 2019 [12] | Female | Hungarian | c.1196 A > G, (p.Asn399Ser) + c.1358G > A (p. Arg453Gln) |
Jamali et al. 2019 [13] | Male | Iranian | homozygous c.874 C > A (p.Pro292Thr) |
Demain et al. 2017 [14] | Female | Norwegian | c.968G < A (p.Arg323Gln) + c.1196 A > G (p.Asn399Ser) |
Oldak et al. 2017 [15] | Female | Polish | c.1196 A > G (p.Asn399Ser) + c.1802G > A (p.Arg601Gln) |
Oldak et al. 2017 [15] | Female | Polish | c.1196 A > G (p.Asn399Ser) + c.1802G > A (p.Arg601Gln) |
Lerat et al. 2016 [1] | Female | Moroccan | homozygous c.793 C > T (p.Arg265Cys) |
Lerat et al. 2016 [1] | Female | Moroccan | homozygous c.793 C > T (p.Arg265Cys) |
Lerat et al. 2016 [1] | Male | Moroccan | homozygous c.793 C > T (p.Arg265Cys) |
Morino et al. 2014 [16] | Female | Japanese | c.1172G > A (p.Arg391His) + c.1754 A > G (p.Asn585Ser) |
Morino et al. 2014 [16] | Female | Japanese | c.1172G > A (p.Arg391His) + c.1754 A > G (p.Asn585Ser) |
Morino et al. 2014 [16] | Female | Greek | c.1321T > G (p.Trp441Gly) + c.1519G > A (p.Val507Ile) |
Morino et al. 2014 [16] | Female | Greek | c.1321T > G (p.Trp441Gly) + c.1519G > A (p.Val507Ile) |