From: There is variability in the attainment of developmental milestones in the CDKL5 disorder
Mutation group | Nucleotide change (cDNA) | Protein change | Exon/intron | Individuals (gender) | Reported mutation | Reported individual |
---|---|---|---|---|---|---|
No functional protein | c.-253-?_-163 + ?del | p.(0) | 1 | 2 (F) | Yes | Yes [4] |
No functional protein | c.-253-?_-163 + ?del | p.(0?) | 1 | 1 (F) | Yes | Yes [4] |
No functional protein | c.-253-?_99 + ?del | p.(0) | 1–3 | 1 (F) | Yes | Yes [4] |
No functional protein | c.64 + 2 T > C | p.(0) | 2 | 1 (F) | Yes | No |
No functional protein | c.64 + 1G > A | p.(0) | 2 | 1 (F) | Yes | Yes [4] |
No functional protein | c.-162-?_99 + ?del | p.(0) | 2–3 | 1 (F) | Yes | Yes [4] |
No functional protein | c.-162-?_99 + ? | p.(0) | 2–3 | 1 (F) | No | No |
No functional protein | c.-253-?_*1085del | p.(0) | 1–21+ | 1 (F) | No | No |
No functional protein | c.-253-?_*1085del | p.(0) | 1–21 | 3(F) | No | No |
No functional protein | c.-253-?_*1085del | p.(0) | 1–21+ | 1 (F) | No | No |
No functional protein | c.-253-?_*1085del | p.(0) | 1–21+ | 1 (F) | Yes | Yes [4] |
No functional protein | c.-253-?_*1085del | p.(0) | 1–21+ | 1 (F) | No | No |
No functional protein | c.65-?_99 + ?del | p.(Ala23Asnfs*3) | 3 | 2 (F and M) | Yes | Yes [4] |
No functional protein | c.99 + 5G > A | p.Ala23Asnfs*3 | 3 | 1 (F) | Yes | |
No functional protein | c.100-?_*1085del | p.(?) | 4–21+ | 1 (F) | No | No |
No functional protein | c.146-1G > A | p.(Asn50Tyrfs*15) | 5 | 1 (M) | No | No |
No functional protein | c.146-6 T > G | p.(Glu49Valfs*2) | 5 | 1 (F) | No | No |
No functional protein | c.146-?_282 + ?del | p.(Asn50Tyrfs*15) | 5 | 1 (F) | Yes | Yes [4] |
No functional protein | c.163_166delGAAA | p.Glu55Argfs*20 | 5 | 1 (F) | Yes | No |
No functional protein | c.175C > T | p.Arg59* | 5 | 5 (4 and 1 M) | Yes | |
No functional protein | c.183delT | p.Met63Cysfs*13 | 5 | 2 (F, twins) | Yes | Yes [4] |
No functional protein | c.220G > T | p.Glu74* | 5 | 1 (F) | No | No |
No functional protein | c.282 + 3_282 + 6delAAGT | p.(Asn50Tyrfs*15) | 5 | 2 (F) | Yes | Yes [4] |
No functional protein | c.283-3_290del | p.(Asn95Ilefs*2) | 5 | 2 (F, sisters) | Yes | |
No functional protein | c.339ins1 | p.? | 6 | 1 (F) | No | No |
No functional protein | c.351 T > A | p.Tyr117* | 6 | 1 (M) | No | No |
No functional protein | c.400C > T | p.Arg134* | 6 | 2 (F and M) | Yes | |
No functional protein | c.456_457delTG | p.Cys152* | 7 | 1 (F) | No | No |
No functional protein | c.464-2A > G | p.Gly155Alafs*43 | 7 | 1 (M) | Yes | No |
No functional protein | c.506_507delAC | p.Thr168Argfs*36 | 8 | 1 (F) | No | No |
Missense/in-frame mutation within catalytic domain | c.38 T > C | p.Phe13Ser | 2 | 1 (F) | Yes | Yes [4] |
Missense/in-frame mutation within catalytic domain | c.58G > C | p.Gly20Arg | 2 | 1 (F) | Yes | |
Missense/in-frame mutation within catalytic domain | c.100-9_100-3delCCCTTGCinsGCAGA | p.(Lys33dup) | 4 | 1 (F) | No | No |
Missense/in-frame mutation within catalytic domain | c.119C > T | p.Ala40Val | 4 | 1 (F) | Yes | Yes [4] |
Missense/in-frame mutation within catalytic domain | c.191 T > C | p.Leu64Pro | 5 | 1 (M) | Yes | |
Missense/in-frame mutation within catalytic domain | c.214_216del | p. Ile72del | 5 | 1 (F) | No | No |
Missense/in-frame mutation within catalytic domain | c.215 T > C | p.Ile72Thr | 5 | 1 (F) | Yes | No |
Missense/in-frame mutation within catalytic domain | c.364G > A | p.Ala122Thr | 6 | 1 (F) | Yes | Yes [4] |
Missense/in-frame mutation within catalytic domain | c.377G > A | p.Cys126Tyr | 6 | 1 (F) | Yes | Yes [4] |
Missense/in-frame mutation within catalytic domain | c.395 T > G | p.Val132Gly | 6 | 1 (F) | No | No |
Missense/in-frame mutation within catalytic domain | c.404A > G | p.(Asp135_Phe154del) | 7 | 1 (M) | No | No |
Missense/in-frame mutation within catalytic domain | c.404-3C > A | p.(Asp135_Phe154del) | 7 | 1 (F) | Yes | Yes [4] |
Missense/in-frame mutation within catalytic domain | c.428 T > A | p. Ile143Asn | 7 | 1 (F) | No | No |
Missense/in-frame mutation within catalytic domain | c.458A > T | p. Asp153Val | 7 | 1 (F) | No | No |
Missense/in-frame mutation within catalytic domain | c.463 + 1G > A | p.Asp135_Phe154del | 7 | 1 (F) | Yes | Yes [4] |
Missense/in-frame mutation within catalytic domain | c.473G > C | p.Arg158Pro | 8 | 1 (M) | Yes | Yes [4] |
Missense/in-frame mutation within catalytic domain | c.514G > A | p.Val172Ile | 8 | 1 (M) | No | No |
Missense/in-frame mutation within catalytic domain | c.526 T > C | p.Trp176Arg | 8 | 1 (F) | No | No |
Missense/in-frame mutation within catalytic domain | c.532C > T | p.Arg178Trp | 8 | 2 (F) | Yes | Yes [4] |
Missense/in-frame mutation within catalytic domain | c.536C > T | p. Ser179Phe | 8 | 1 (F) | No | No |
Missense/in-frame mutation within catalytic domain | c.577G > C | p.Asp193His | 9 | 1 (F) | No | No |
Missense/in-frame mutation within catalytic domain | c.587C > T | p.Ser196Leu | 9 | 5 (F) | Yes | Yes [4] |
Missense/in-frame mutation within catalytic domain | c.595 T > C | p.Cys199Arg | 9 | 1 (F) | Yes | Yes [4] |
Missense/in-frame mutation within catalytic domain | c.620G > A | p.Gly207Glu | 9 | 1 (F) | Yes | Yes [4] |
Missense/in-frame mutation within catalytic domain | c.656A > C | p.Gln219Pro | 9 | 1 (F) | Yes | Yes [4] |
Missense/in-frame mutation within catalytic domain | c.680 T > C | p.Leu227Pro | 9 | 1 (F) | Yes | Yes [4] |
Missense/in-frame mutation within catalytic domain | c.872G > A | p.Cys291Tyr | 11 | 1 (F) | Yes | No |
Truncation occurring between aa 172 and 781 | c.670C > T | p.Gln224* | 9 | 1 (M) | No | No |
Truncation occurring between aa 172 and 781 | c.556_557delGC | p.Ala186Serfs*19 | 9 | 1 (M) | No | No |
Truncation occurring between aa 172 and 781 | c.745-?_977 + ?del | p.(Phe249Lysfs*16) | 10–11 | 1 (F) | No | No |
Truncation occurring between aa 172 and 781 | c.801_802delAT | p.Asn267Lysfs*5 | 11 | 1 (F) | No | No |
Truncation occurring between aa 172 and 781 | c.857dupA | p.Tyr286* | 11 | 1 (F) | Yes | Yes [4] |
Truncation occurring between aa 172 and 781 | c.859_868del10 | p.Leu287Serfs*3 | 11 | 1 (F) | Yes | Yes [4] |
Truncation occurring between aa 172 and 781 | c.978-?_2980 + ?del | p.? | 12+ | 1 (F) | No | No |
Truncation occurring between aa 172 and 781 | c.1039C > T | p.Gln347* | 12 | 1 (F) | Yes | No |
Truncation occurring between aa 172 and 781 | c.1371dupA | p.Leu458Thrfs*5 | 12 | 1 (F) | Yes | Yes [4] |
Truncation occurring between aa 172 and 781 | c.1375C > T | p.Gln459* | 12 | 1 (F) | Yes | Yes [4] |
Truncation occurring between aa 172 and 781 | c.1446delC | p.Tyr482* | 12 | 1 (F) | Yes | Yes [4] |
Truncation occurring between aa 172 and 781 | c.1470_1471delGG | p.Ala491Thrfs*3 | 12 | 1 (F) | Yes | Yes [4] |
Truncation occurring between aa 172 and 781 | c.1499ins4 | p.? | 12 | 1 (F) | Yes | Yes [4] |
Truncation occurring between aa 172 and 781 | c.1547_1554del8 | p.Tyr516Phefs*2 | 12 | 1 (F) | No | No |
Truncation occurring between aa 172 and 781 | c.1581del | p.Pro527fs | 12 | 1 (F) | No | No |
Truncation occurring between aa 172 and 781 | c.1648C > T | p.Arg550* | 12 | 4 (F) | Yes | Yes (1 child [4]) |
Truncation occurring between aa 172 and 781 | c.1671dupA | p.Arg558Thrfs*9 | 12 | 1 (F) | Yes | No |
Truncation occurring between aa 172 and 781 | c.1675C > T | p.Arg559* | 12 | 1 (F) | Yes | Yes [4] |
Truncation occurring between aa 172 and 781 | c.1782 T > G | p.Tyr594* | 12 | 1 (F) | Yes | Yes [4] |
Truncation occurring between aa 172 and 781 | c.1791delC | p.Tyr598Thrfs*18 | 12 | 1 (F) | Yes | Yes [4] |
Truncation occurring between aa 172 and 781 | c.2038A > T | p.Lys680* | 13 | 1 (F) | Yes | Yes [4] |
Truncation occurring between aa 172 and 781 | c.2047-1G > A | p.Gly683Valfs*101 | 13 | 1 (F) | Yes | Yes [4] |
Truncation occurring between aa 172 and 781 | c.2047-2A > G | p.Gly683Cysfs*66 | 13 | 1 (F) | Yes | Yes [4] |
Truncation occurring between aa 172 and 781 | c.2072_2073delCT | p.Ser691* | 14 | 1 (F) | Yes | Yes [4] |
Truncation occurring between aa 172 and 781 | c.2258_2259delAA | p.Gln753Profs*10 | 15 | 1 (F) | No | No |
Truncation occurring between aa 172 and 781 | c.2376 + 5G > A | p.(Lys760Tyrfs*10) | 16 | 1 (F) | Yes | Yes [4] |
Late truncation after aa 781 | c.2374dupA | p.Thr792Asnfs*9 | 16 | 1 (F) | Yes | Yes [4] |
Late truncation after aa 781 | c.2377-8 T > A | p.(Val793Leufs*2) | 16 | 1 (F) | No | No |
Late truncation after aa 781 | c.2413C > T | p.Gln805* | 17 | 1 (M) | No | No |
Late truncation after aa 781 | c.2420_2430del | p.Ser807Cysfs*2 | 17 | 1 (M) | No | No |
Late truncation after aa 781 | c.2504delC | p.Pro835Hisfs*2 | 17 | 1 (F) | Yes | Yes [4] |
Late truncation after aa 781 | c.2477-?_2713 + ?del | p.(Ser833Thrfs*22) | 17 | 2 (F) | No | No |
Late truncation after aa 781 | c.2564C > G | p.Ser855* | 18 | 2 (F) | Yes | Yes [4] |
Late truncation after aa 781 | c.2572delC | p.Arg858Alafs*5 | 18 | 1 (F) | Yes | Yes [4] |
Late truncation after aa 781 | c.2635_2636delCT | p.Leu879Glufs*30 | 18 | 2 (F) | Yes | Yes [4] |
Late truncation after aa 781 | c.2711delC | p.Pro904Glnfs*23 | 18 | 1 (F) | Yes | Yes [4] |
Mutations not grouped | ||||||
 | c.1612A > G | p.Thr538Ala | 1 | 1 (M) | No | No |
 | c.2684C > T | p.Pro895Leu | 18 | 1 (F) | No | No |
 | c.65-?_1944 + ?dup | p.(?) | 3–12 | 1 (M) | No | No |
 | c.146-?_463 + ?dup | p.(?) | 5–7 | 1 (F) | No | No |
 | (Position uncertain) | p.(?) | 1–3 | 1 (M) | Yes | Yes [4] |
 | c.745-2A > G | p.(Phe249_Lys275del) | 10 | 1 (F) | Yes | Yes [4] |
 | c.825 + 1G > A | p.(Phe249_Lys275del) | 10 | 1 (F) | Yes | Yes [4] |
 | c.825 + 1G > T | p.(Phe249_Lys275del) | 10 | 1 (F) | Yes | No |
 | c.1030_1031insGAC | p.Lys344delinsArgGln | 12 | 1 (F) | Yes | Yes [4] |
 | c.2276 + 1G > A | p.(Val718_Trp759delinsGly) | 15 | 1 (F) | Yes | Yes [4] |