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. 2023 Sep 18;147(1):281–296. doi: 10.1093/brain/awad315

Table 2.

Variants identified in congenital myasthenic syndrome patients diagnosed with postsynaptic defects

Gene Variant 1 (cDNA) Variant 1 (p.) Variant 2 (cDNA) Variant 2 (p.) Zygosity Patients
Acetylcholine receptor defects
CHRNE c.1327delG p.E443Kfs*64 c.1327delG p.E443Kfs*64 Hom P1–17a
CHRNE c.130dupG p.E44Gfs*3 c.130dupG p.E44Gfs*3 Hom P18
CHRNE c.130dupG p.E44Gfs*3 c.1327delG p.E443Kfs*64 C.Het P19–20
CHRNE c.1204C>T p.Q402* c.1204C>T p.Q402* Hom P21–23
CHRNE c.991C>T p.R331W c.991C>T p.R331W Hom P24
CHRNE c.1371delC p.C458Afs*49 c.1371delC p.C458Afs*49 Hom P25–28
CHRNE c.1052C>T p.P351L c.1052C>T p.P351L Hom P29–30
CHRNE c.250C>T p.R84* c.501-10_504dup p.Q169Gfs*19 C.Het P31
CHRNE c.799C>T p.Q267* c.799C>T p.Q267* Hom P32
CHRNE c.860_861insT p.L287Ffs*110 c.860_861insT p.L287Ffs*110 Hom P33–34
CHRNE c.689T>A p.V230D c.729C>G p.Y243* C.Het P35–36
CHRNE c.235-1G>A – c.1216_1219+19del – C.Het P37
CHRNE c.467C>T p.P156L c.467C>T p.P156L Hom P38–39
CHRNE c.1219+1G>T – c.1219+1G>T – Hom P40
CHRNE c.1216_1219+19del – c.1216_1219+19del – Hom P41–42
CHRNE c.501-10_504dup p.Q169Gfs*19 c.235-1G>C – Likely C.Het P43b
CHRNE c.713G>A p.R238Q c.713G>A p.R238Q Hom P44
CHRNE c.729C>G p.Y243* c.729C>G p.Y243* Hom P45
CHRNE c.712C>T p.R238W c.712C>T p.R238W Hom P46
CHRNE c.183_187dup p.L63Pfs*3 c.183_187dup p.L63Pfs*3 Hom P47
CHRNE c.684_687del p.D229Sfs*70 c.684_687del p.D229Sfs*70 Hom P48
CHRNE c.686_687dup p.V230Tfs*71 c.686_687dup p.V230Tfs*71 Hom P49
CHRNE c.905C>T p.P302L c.905C>T p.P302L Hom P50
CHRNE c.501-10_504dup p.Q169Gfs*19 c.501-10_504dup p.Q169Gfs*19 Hom P51
CHRNE c.293T>C p.L98P c.293T>C p.L98P Hom P52
CHRNE c.501-10_504dup p.Q169Gfs*19 c.293T>C p.L98P Likely C.Het P53b
CHRNE c.209_210del p.L70Hfs*3 c.209_210del p.L70Hfs*3 Hom P54
CHRNE c.1002_1008dup p.A337Hfs*62 c.1216_1219+19del – Likely C.Het P55b
CHRNE c.799C>T p.Q267* c.500+40G>C – Likely C.Het P56b
CHRNE c.854T>C p.V285A – – Het (D) P57b
CHRNE c.326A>T p.E109V – – Het (R) P58–59
CHRND c.1334T>C p.I445T c.1334T>C p.I445T Hom P60
CHRND c.1204G>A p.E402K c.1204G>A p.E402K Hom P61
CHRND c.1390C>T p.R464* – – Het (R) P62
CHRNA1 c.517G>A p.G173S – – Het (D) P63b
CHRNB1 c.432_437dup p.G145_I146insMG – – Het (R) P64
Development and maintenance gene defects
DOK7 c.1124_1127dup p.A378Sfs*30 c.1124_1127dup p.A378Sfs*30 Hom P65–71
DOK7 c.1124_1127dup p.A378Sfs*30 c.1263dupC p.S422Lfs*97 Likely C.Het P72b
DOK7 c.1124_1127dup p.A378Sfs*30 c.957delC p.K320Sfs*136 Likely C.Het P73b
DOK7 c.1124_1127dup p.A378Sfs*30 c.437C>T p.P146L C.Het P74–76
DOK7 c.1124_1127dup p.A378Sfs*30 c.773-1G>C - C.Het P77
DOK7 c.1197_1212del p.S400Mfs*51 c.1197_1212del p.S400Mfs*51 Hom P78
DOK7 c.437C>T p.P146L c.1112C>A p.S371* Likely C.Het P79b
DOK7 c.331+1G>T c.1324_1357del p.C442Afs*3 Likely C.Het P80b
DOK7 c.1322_1347dup p.R450Gfs*15 c.472C>T p.R158W C.Het P81
DOK7 c.652G>A p.D218N c.652G>A p.D218N Hom P82
DOK7 c.1124_1127dup p.A378Sfs*30 – – Het (R) P83
DOK7 c.1083_1086del p.V362Gfs*93 – – Het (R) P84
MUSK c.496C>T p.R166* c.1634T>C p.L545P Hom P85
MUSK c.1742T>A p.I581N c.1742T>A p.I581N Likely C.Het P86,P87–90
MUSK c.1925T>A p.L642* c.2114T>A p.I705N Likely C.Het P91b
MUSK c.1904_1912dup p.N635_N637dup c.1904_1912dup p.N635_N637dup C.Het P92
AGRN c.3413T>C p.L1138P c.3413T>C p.L1138P C.Het P93
AGRN c.5302G>A p.A1768T c.6057_6060delinsT p.V2022del Hom P94
RAPSN c.-210A>G – c.1144T>C p.C382R Likely C.Het P95
MACF1 c.4687G>A p.V1563M c.4687G>A p.V1563M Likely C.Het P96

C.Het = compound heterozygous; Hom = homozygous; Het (R) = heterozygous in recessive; Het (D) = heterozygous in dominant. Bold text represents single heterozygous variants in possible recessive phenotypes.

aP17 had homozygous pathogenic mutations in both CHRNE and DYSF.

bSegregation not confirmed.