Table 1 Summary table of reported CASK variants
Publication | No | Sex | Age | POP | LOC | Variant | AAC | TOV | Geno | Phenotype |
|---|---|---|---|---|---|---|---|---|---|---|
Juliane Najm et.al. (2008) [21] | 1 | F | - | - | - | - | - | - | - | MICPCH, ID, deafness |
2 | F | - | - | - | - | - | - | - | MICPCH, ID | |
3 | F | - | - | - | - | - | - | - | MICPCH, ID | |
4 | F | - | - | Ex21 | c.1915C > T | p.(R639*) | Non | Hete | MICPCH, ID | |
5 | M | - | - | Ex9 | c.915G > A | p. = | Spl | - | MICPCH, ID | |
Shin Hayashi, et al. (2008) [24] | 6 | F | 5y | - | - | arrXp11.4p11.3 (41,500,243–45,480,187) × 1 | - | - | - | MICPCH, DD, strabismus, nystagmus |
Giulio Piluso et al. (2009) [3] | 7 | M | - | Ita | Ex2 | c.83G > T | p. (R28L) | Mis | Hemi | FG, ID, hypotonia |
Patrick S Tarpey et al. (2009) [25] | 8 | M | - | - | - | c.829C > T | p.(Y268H) | Mis | - | ID |
9 | - | - | - | Ex22 | c.2129A > G | p.(D710G) | Mis | - | ID, nystagmus | |
10 | - | - | - | - | c.2767C > T | p.(W914R) | Mis | - | ID, nystagmus | |
11 | - | - | - | - | c.1188C > T | p.(P396S) | Mis | - | ID | |
Anna Hackett et al. (2010) [4] | 12 | M | - | - | Ex22 | c.2129A > G | p.(D710G) | Mis | - | ID, nystagmus, strabismus |
13 | M | - | - | Ex27 | c.2756 T > C | p.(W919R) | Mis | - | ID, nystagmus, epilepsy | |
14 | M | - | - | Ex8 | c.802 T > C | p. (Y268H) | Mis | - | ID, epilepsy | |
15 | M | - | A-A | Ex13 | c.1186C > T | p.(P396S) | Mis | - | ID, unsteady gait, resting tremor | |
16 | M | - | - | Ex23 | c.2183A > G | p.(Y728C) | Mis | - | ID, cerebellar hypoplasia | |
17 | M | - | - | Ex26 | c.2521-2A > T | p.(841_868 and p.841_843 del ALK) | Mis | - | ID, nystagmus | |
Ute Moog et al. (2011) [22] | 18 | F | 10 m | Fre | In2 | c.173-2A > C | - | Frs | - | ID, small nose, micrognathia, |
19 | F | 10 m | Fre | Ex3 | c.174 T > A | p.(D58E) | - | - | ID, small nose, micrognathia, | |
20 | F | 5y | Bri | In8 | c.831 + 2 T > G | - | Frs | - | ID, epilepsy, BCH | |
21 | F | 2y 10 m | Fre | In17 | c.1668 + 1G > A | - | Spl | - | BCH, hypotonia, small nose | |
22 | F | 4y | Ame | Ex5 | c.379C > T | p.(E127*) | - | - | Axial hypotonia, peripheral hypertonia, | |
23 | F | 8y | Ame | Ex17 | c.1639C > T | p.(Q547*) | - | - | BCH, hypertonia, strabismus | |
24 | F | 2y4m | Ame | In5 | c.430–2 A > T | - | Spl | - | BCH, hypertonia, dyskinesia | |
Jun-ichi Takanashi et al. (2012) [26] | 25 | F | 7y | Jap | - | c.173_173 + 1delGG | - | - | - | MICPCH, DD |
26 | F | 11y | Jap | - | c.2302 + 1 del T | - | - | - | MICPCH, DD | |
27 | F | 8y | Jap | - | c.1910G > A | p.(G637D) | - | - | MICPCH, DD | |
28 | M | 2y | Jap | - | c.1061 T > C | p.(L348P) | - | - | MICPCH, DD, epilepsy | |
29 | F | 24y | Jap | Ex4 | c.316C > G | p. (R106 *) | - | - | MICPCH, DD, epilepsy | |
Lydie Burglen et al. (2012) [27] | 30 | F | 7y | - | Ex1-8 | Xp11.4 deletion 0.3 Mb | - | - | - | PCH, ID, DD, FD, spasticity |
31 | F | 3y | - | Ex 1–27 | Xp11.3-p11.4 deletion 3 Mb | - | - | - | ID, DD, deafness, FD, spasticity | |
32 | F | 14y | - | Ex1 | Xp11.4 deletion 0.5 Mb | - | - | - | ID, DD, FD spasticity | |
33 | F | 13y | - | Ex21 | c.1968G > A | p.(W656*) | Non | - | ID, DD, FD, epilepsy | |
34 | F | 3y | - | In21 | c.2040–2 A > G | - | Spl | - | ID, DD, deafness spasticity | |
35 | F | 1y | - | Ex22 | c.2080C > T | p.(Q694*) | Non | - | ID, DD, FD | |
36 | F | 1y | - | Ex22 | c.2074C > T | p.(Q692*) | Non | - | ID, DD, epilepsy | |
37 | F | 10y | - | In24 | c.2302 + 5G > A | - | Spl | - | ID, DD, deafness, epilepsy, | |
38 | F | 14y | - | In21 | c.2039 + 1G > T | - | Spl | - | ID, DD, FD, spasticity, | |
39 | F | 8y | - | Ex21 | c.1970G > A | p.(W657*) | Non | - | ID, DD, FD, stereotypies | |
40 | F | 3y 6 m | - | Ex15 | c.1501dupA | p.(M501fs) | Frs | - | ID, DD, FD, stereotypies | |
41 | M | 15y | - | Ex4 | c.[= /316C > T] | p.(R106*)mos | Non | - | ID, DD, FD, stereotypies | |
42 | M | 13y | - | In3 | c.278 + 1G > A | - | Spl | - | ID, DD, FD, epilepsy | |
Vassili Valayannopoulos,et al. (2012) [28] | 43 | F | 13y | - | - | c.1970G > A | p.(W657*) | - | - | MICPCH, trunk ataxia, swallowing difficulties |
44 | F | 8y | - | Ex16 | c.1577delG | p.(R526Sfs-X74) | Frs | - | MICPCH, trunk ataxia, dystonia, spasticity | |
45 | 13y | - | Ex21 | c.1968G > A | p.(W656*) | - | - | MICPCH, dystonia, swallowing difficulties | ||
Hirotomo Saitsu, et al. (2012) [29] | 46 | M | 4y | - | Ex2 | (NG_016754.1: g.17883_129055del | deletion 111 Mb | - | - | MICPCH, OS, micropenis |
47 | M | 4y | - | Ex1 | c.1A > G | p.(M1V) | - | Hemi | MICPCH, OS, | |
Shin Hayashi et al. (2012) [5] | 48 | F | 2y 8 m | Jap | Ex2 | c.79C > T | p.(R27*) | Non | - | ID, DD, deafness, microcephaly, hypotonia |
49 | F | 2y | Jap | - | c.316C > T | p.(R106*) | Non | - | ID., deafness, microcephaly, hypotonia | |
50 | F | 2y 8 m | Jap | Ex27 | c.2632C > T | p.(Q878*) | Non | - | ID, hyperopia microcephaly | |
51 | F | 11 m | Jap | Ex3 | c.243_244delTA | p.(Y81*) | Frs | - | microcephaly, ID | |
52 | F | 7y 9 m | Jap | In4 | c.357-1G > A | p.S119Rfs7X, p.H120Rfs22X | Spl | - | microcephaly, ID | |
53 | F | 14y | Jap | - | c.2041-1G > C | p.W608Cfs29X, p.W608Cfs3X | Spl | - | Microcephaly, ID | |
54 | F | 1y 9 m | Jap | - | arrXp11.4p11.3 (41,009,876–44,100,501) × 1 | - | - | - | MICPCH, DD, deafness, hypotonia | |
55 | F | 2y | Jap | - | arrXp11.4p11.3 (41,337,795–42,468,013) × 1 | - | - | - | MICPCH, DD | |
56 | F | 12y | Jap | - | arrXp11.4 (41,405,593–41,570,391) × 3 | - | - | - | MICPCH, DD, epilepsy, strabismus | |
57 | F | 2 m | Jap | - | arrXp11.4 (41,382,179–41,540,922) × 3 arrXp11.22 (56,012,908–56,275,153) × 3 | - | - | - | MICPCH, DD, epilepsy, hypotonia, strabismus | |
Nakamura K. et al. (2014) [23] | 58 | M | - | - | Ex3 | c.227_228del | p.(E76Vfs*6) | Frs | Hemi | PCH, TOF, epilepsy |
JacquesL. Michaud et al. (2014) [30] | 59 | F | 36 m | - | Ex2 | c.82C > T | p.(R28*) | - | - | ID, cortical and cerebellar atrophy |
Ute Moog et al. (2015) [31] | 60 | M | 7 m | - | Ex7 | c.704_708del | p.(K236Efs* 10ex7dn) | Frs | - | MICPCH, ID, DD, epilepsy, hypotonia |
61 | M | 10 m | - | - | dup ex10 – 16dn | - | - | - | MICPCH, ID, DD, epilepsy, hypotonia | |
62 | M | 5y | - | - | c.1A > G ex1dn | - | - | - | MICPCH, ID, DD, epilepsy, hypotonia | |
63 | M | 15 m | - | - | c.79C > T | p.(R27*ex2 dn) | - | - | MICPCH, ID, DD, epilepsy, hypotonia | |
64 | M | 7 m | - | - | dup ex4–20 mos | - | - | - | MICPCH, ID, DD, epilepsy, hypertonia | |
65 | M | 16 m | - | - | del ex1mos | - | - | - | MICPCH, ID, DD, hypertonia | |
66 | M | 29 m | - | - | del ex3–9 mos | - | - | - | MICPCH, ID, DD | |
67 | M | 20 m | - | - | dup ex1–5 mat | - | - | - | Microcephaly, DD | |
Tomoshi Nakajiri et al. (2015) [32] | 68 | F | 13y | Jap | Ex21 | c.1896dupC | p.(C633Lfs*2) | Frs | Hete | MICPCH, epilepsy |
Patrick Rump et al. (2016) [33] | 69 | F | 22y | - | - | c.2302 + 2 T > G | - | - | Hete | MICPCH, ID, DD, FD, epilepsy |
Lucía Rivas et al. (2017) [34] | 70 | F | 5y | - | - | deletion254.01 Kb | - | - | - | MICPCH, WS |
Shin Hayashi et al. (2017) [35] | 71 | F | 1y | - | - | c.868G > T | p.(E290*) | - | - | MICPCH, DD |
72 | F | 5 m | - | - | c.761-762delCT | p.(S246*) | - | - | MICPCH, hypotonia | |
73 | F | 15y | - | - | c.1006-1012del ACCTCCT | p.(T336Qfs* 23) | - | - | MICPCH, epilepsy, DD, hypotonia | |
74 | F | 4y2m | - | - | c.2103delT | p.(F710Lfs* 26) | - | - | MICPCH, DD | |
75 | F | 1y | - | - | c.1677dupG | p.(R560Afs* 20) | - | - | MICPCH, DD | |
76 | F | 17y | - | - | c.2508delT | p.(L837*) | - | - | MICPCH, DD, epilepsy | |
77 | F | 11y | - | - | c.1896dupC | p.(C633Lfs*2) | - | - | MICPCH, epilepsy DD, hypertonia | |
78 | F | 1y | - | - | c.1582 + G > A | - | - | - | MICPCH, DD | |
79 | F | 3y | - | - | c.2302 + 1G > T | - | - | - | MICPCH | |
80 | M | 4y 4 m | - | - | c.317G > C | p.(R106P) | - | - | MICPCH | |
81 | M | 2y | - | - | c.[= /1493_1503 + 10delATGAACCAATGGTAAGTAGGAinsGG] | p.(D498Gfs* 12) | - | - | MICPCH, epilepsy DD, hypotonia | |
82 | F | 6y4m | - | - | arrXp11.4p11.3 (41,618,898–43,755,475) × 1 | - | - | - | MICPCH, DD, epilepsy | |
83 | F | 4y | - | - | arrXp11.4p11.3 (41,145,925–46,090,321) × 1 | - | - | - | MICPCH, | |
84 | F | 12y8m | - | - | arrXp11.4p11.3 (41,163,139–44,592,980) × 1 | - | - | - | MICPCH, DD, glaucoma, PHPV | |
85 | F | - | - | - | arrXp11.4 (41,442,660–41,527,850) × 3 | - | - | - | Died | |
Bernt Popp et al. (2017) [36] | 86 | F | 5y | Ger | Ex2 | c.68del | p.(F23Sfs*18) | Frs | - | MICPCH, deafness, ID hypertonia |
Stephanie C. DeLuca et al. (2017) [37] | 87 | F | 54 m | - | - | c.2221 + 1G > C | - | - | - | MICPCH, single- word speech |
88 | F | 89 m | - | Ex17 | c.1609C > T | p.(R537*) | - | - | MICPCH | |
89 | F | 24 m | - | - | c.106C > T | p.(Q36*) | - | - | MICPCH, DD | |
P. Dunn, et al. (2017) [38] | 90 | M | 6y 6 m | - | Ex26 | c.2521–2 A > G | - | - | - | FG, nystagmus |
Toshiyuki Seto et al. (2017) [39] | 91 | M | 5y | - | Ex15 | c.1424G > T | p.(S475I) | Mis | - | microcephaly, ASD |
92 | F | 3y | - | - | c.1424G > T | p.(S475I) | Mis | - | DD, ASD | |
Babylakshmi Muthusamy et al. (2017) [40] | 93 | M | 14y & 17y | Ind | - | E550_dup | Stop gain and in-frame insertion | - | Hemi | microcephaly, clinodactyly |
Xiuhua Bozarth et al. (2018) [41] | 94 | F | - | ME-C | - | c.2179–2181del GTA | p.(V727del) | - | Hete | infantile spasms, nystagmus, strabismus |
Leslie E. W. LaConte et al.(2018) [42] | 95 | F | 12y | - | - | c.1556 T > C | p.(M519T), | Mis | - | MICPCH, gait ataxia, nystagmus |
96 | F | 5y | - | - | c.1989G > A: | p.(G659D) | Mis | Hete | MICPCH strabismus | |
97 | F | 9y | - | - | c.626 T > C | p.(L209P) | - | - | MICPCH, ID, motor disability | |
Hiroaki Murakami et al. (2019) [43] | 98 | F | 5y | - | - | c.2041C > T | p.(R681*) | Non | - | microcephaly, BCH, DD, hypotonia |
Francesca Cristofoli et al. (2019) [44] | 99 | F | 25y | Eur | - | c.1315–7 A > G | p.(M438-A 439 insH*) | Spl | - | ID, DD, dystonia, small cerebellum |
100 | F | 21y | Eur | - | c.C109T | p.(Q37*) | Non | - | ID, DD, visual impairment | |
101 | F | 6y | Eur | - | c.T626C | p.(L209P) | Nonsy-nonym-ous | - | ID, DD, FD, hypotonia, nystagmus | |
102 | F | 17y | Eur | - | c.2302 + 1 G > A | p.(G741-H768 delinsD) | Spl | - | ID, DD, Visual impairment | |
ZHANG Yi, et al. (2019) [7] | 103 | M | 3 m 27d | Chi | Ex20 | c.1818_1821dup AACT | p.(T608Nfs* 16) | Frs | Hemi | MICPCH, DD, FD, hypertonia |
This study | 104 | M | 18d | Chi | Ex8 | c.764G > A | p.(R255H) | Mis | Hemi | microcephaly, ID, DD, epilepsy, deafness |