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. 2024 Jul 13;15(7):916. doi: 10.3390/genes15070916

Table 2.

Total schwannomatosis probands associated with LZTR1 variants reported in literature. Total of 123 patients affected with schwannomas showed 105 constitutional LZTR1 variants in blood with a pathogenicity class belonging to class 4 and 5 according to ACMG criteria. Our case is highlighted in grey. Yellow boxes specify common variants in two patients’ cohorts. n.a.: not available, +: presence of the clinical feature.

Ref. Variants (n = 105) Classification (P/LP/VUS) # Patients (n = 123) Gender (M = 34/F = 37) Age # Pt with Schwannomas
Piotrowski et al. (2014) [20] c.264-13G>A, p.Lys89Cysfs*16 LP Proband M n.a. +
Son M n.a. +
Daughter F n.a. +
c.356A>G, p.Tyr119Cys LP Proband M n.a. +
Father M n.a. +
c.1559C>T, p.Pro520Leu LP Proband M n.a. +
Mother F n.a. +
c.2062C>T, p.Arg688Cys LP Proband F n.a. +
c.2438G>T p.Ser813Ile LP Proband F n.a. +
c.27delG, p.Gln10Argfs*15 P Proband F n.a. +
c.2348_2351del, p.Thr783Argfs*5 P Proband F n.a. +
Father M n.a. +
Brother M n.a. +
c.594-3C>G, p.(?) LP Proband F n.a. +
c.1397G>A, p.Arg466Gln P Proband M n.a. +
Daughter F n.a. +
Hutter et al. (2014) [24] c.321-2delA, p.(?) P Proband F 19 +
c.352dupC, p.Arg118Profs*28 P Proband F 51 +
c.1312G>T, p.Glu438* P Proband F 56 +
c.1480_1481insAG, p.Arg494Lysfs*63 LP Proband F 40 +
c.2247C>A, p.Tyr749* P Proband F 46 +
Paganini et al. (2015) [23] c.212A>G, p.His71Arg Proband F 34 +
c.243T>G, p.Tyr81* LP Proband M 32 +
c.352dupC, p.Arg118Profs*28 P Proband F 49 +
c.373_375del, p.Val125del LP Proband F 46 +
c.513delG, p.Leu171Phefs*29 LP Proband F 34 +
c.555_556dupCA, p. Lys186Thrfs*15 LP Proband F 29 +
c.560T>G, p.Leu187Arg LP Proband F 44 +
c.628C>T, p.Arg210* P Proband M 42 +
c.791+1G>A, p.(?) P Proband F 46 +
Brother M 55 +
c.850C>T, p.Arg284Cys P Proband F 42 +
c.1018C>T, p.Arg340* P Proband F 31 +
c.1199T>G, p.Met400Arg LP Proband M 32 +
c.1373dupG, p.His459Profs*210 P Proband M 69 +
Father M n.a. +
c.1394C>A, p.Ala465Glu LP Proband M 33 +
c.1486delG, p.Ala496Profs*60 LP Proband M 71 +
c.1602delA, p.Lys534Asnfs*22 P Proband M 41 +
c.1779delA, p.Gln593Hisfs*7 LP Proband M 44 +
c.1807delG, p.Val603* P Proband F 44 +
c.2089C>T, p.Arg697Trp LP Proband F 39 +
c.2278T>C, p.Cys760Arg LP Proband M 28 +
c.2284C>T, p.Gln762* P Proband M 30 +
c.2487dupA, p.Asp830Argfs*21 LP Proband M 43 +
Smith et al. (2015) [33] c.570delT, p.Phe190Leufs10 P Proband M 37 +
Proband M 37 +
c.2284C>T, p.Gln762* P Proband F 20 +
Proband M 17 +
Proband F 25 +
c.605T>G, p.Met202Arg VUS Proband F 44 +
Proband M 23 +
c.964G>T, p.Glu322* LP Proband M 38 +
c.1483dupG, p.Glu495Glyfs*174 LP Proband F 53 +
Proband F 25 +
c.1175C>T, p.Ala392Val VUS Proband F 20 +
c.401-2A>G, p.(?) P Proband n.a. 60 +
c.509G>A, p.Arg170Gln P n.a. n.a. 39 +
n.a. n.a. 66 +
c.842delC, p.Pro281Argfs*70 P Proband n.a. 52 +
c.856G>A, p.Gly286Arg LP Proband n.a. 51 +
c.1353+1G>A, p.(?) LP Proband n.a. 15 +
c.1583T>G, p.Leu528Arg LP Proband n.a. 43 +
c.1893delG, p.Lys632Serfs*20 P Proband n.a. 28 +
c.1961A>G, p.Asp654Gly LP Proband n.a. 45 +
c.2002G>T, p.Asp668Tyr LP Proband n.a. 22 +
c.2062C>T, p.Arg688Cys LP Proband n.a. 16 +
c.27delG, p.Gln10Argfs*15 P Proband n.a. 48 +
c.1785+2delT, p.(?) LP Proband n.a. 43 +
Farschtschi et al. (2016) [38] c.975delG, p.Gln325Hisfs*26 LP Proband M 30 +
Smith et al. (2017) [25] c.1210 G>A, p.(Gly404Arg) P Proband M 39 +
Louvrier et al. (2018) [27] c.27delG, p.Gln10Argfs*15 P Proband F n.a. +
Proband n.a. 48 +
c.264-13G>A, p.Lys89Cysfs*16 LP Proband M n.a. +
Son M n.a. +
c.353G>A, p.Arg118His LP Proband n.a. n.a. +
Proband n.a. n.a. +
Proband n.a. n.a. +
Proband n.a. n.a. +
c.428delA, p.Asn143Ilefs*4 LP Proband n.a. n.a. +
c.652-34G>T, p.(?) VUS Proband n.a. n.a. +
c.685_692delTGCAACTT, p.Cys229Profs*28 LP Proband n.a. n.a. +
c.764T>G, p.Leu255Arg VUS Proband n.a. n.a. +
c.842C>T, p.Pro281Leu LP Proband n.a. n.a. +
c.891T>G, p.Tyr297* LP Proband n.a. n.a. +
c.967_980delGTCGTCCAGCCCAG, p.Val323Leufs*9 P Proband n.a. n.a. +
c.993+1G>T, p.(?) P Proband n.a. n.a. +
c.1015G>T, p.Glu339* LP Proband n.a. n.a. +
c.1084C>T, p.Arg362* P Proband n.a. n.a. +
c.1126C>T, p.Gln376* P Proband n.a. n.a. +
c.1260+2T>C, p.(?) LP Proband n.a. n.a. +
c.1299C>G, p.Tyr433* LP Proband n.a. n.a. +
c.1394C>T, p.Ala465Val VUS Proband n.a. n.a. +
c.1396C>T, p.Arg466Trp P Proband n.a. n.a. +
c.1576C>T, p.Gln526* P Proband n.a. n.a. +
c.1957dupC, p.Gln653Profs*16 LP Proband n.a. n.a. +
c.1964T>A, p.Met655Lys VUS Proband n.a. n.a. +
c.2063G>A, p.Arg688His LP Proband n.a. n.a. +
c.2407-2A>G, p.(?) P Proband n.a. n.a. +
c.2429G>A p.Arg810Gln LP Proband n.a. n.a. +
c.1-?_2523+?del P Proband n.a. n.a. +
Kehrer-Sawatzki et al. (2018) [28] c.2247C>A, p.Tyr749* P Proband n.a. n.a. +
c.1653C>G, p.Tyr551* P Proband n.a. n.a. +
c.975delG, p.Gln325Hisfs*26 LP Proband n.a. n.a. +
c.321-2A>C, p.(?) LP Proband n.a. n.a. +
c.1018C>T, p.Arg340* P Proband n.a. n.a. +
c.628C>T, p.Arg210* P Proband n.a. n.a. +
c.1792T>C, p.Cys598Arg VUS Proband n.a. n.a. +
Jordan et al. (2018) [29] c.73delG, p.Ala25Profs*17 P Proband n.a. n.a. +
c. 1084C>T, p.Arg362* P Proband n.a. n.a. +
c. 1396C>T, p.Arg466Trp P Proband n.a. n.a. +
c.2350_2360del, p.Gln784Hisfs*63 P Proband n.a. n.a. +
c.1786–1G>A, p.(?) LP Proband n.a. n.a. +
Deiller et al. (2019) [39] c.1126C >T, p.(Gln367Ter) P Proband F 43 +
c.264-13G>A, p.Lys89Cysfs*16 LP Proband F 70 +
Alaidarous et al. (2019) [22] c.692delT, p.Phe231Serfs*21 LP Proband F 23 +
c.764 T > G, p.Leu255Arg VUS Proband F 38 +
c.264-13G > A, p.Lys89Cysfs*16 LP Proband F 28 +
Herrero San Martin and Alcala-Galiano (2020) [30] c.1203C>G, p.Tyr401* LP Proband M 54 +
Muthusamy et al. (2021) [31] c.231delA p.Asp78Metfs*23 LP Proband M 19 +
Loh et al., 2022 [32] c.1768C > T; p.Gln590* P Proband F 48 +
c.1210G > A; p.Gly404Arg P Proband M 28 +
Current case 1 c.979delA, p.Ser327Alafs*24 LP Proband M 55 +