Juliane Najm
et.al. (2008)
|
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)
|
6
|
F
|
5y
|
-
|
-
|
arrXp11.4p11.3 (41,500,243–45,480,187) x1
|
-
|
-
|
-
|
MICPCH, DD, strabismus,
nystagmus
|
Giulio Piluso
et al. (2009)
|
7
|
M
|
-
|
Ita
|
Ex2
|
c.83G > T
|
p. (R28L)
|
Mis
|
Hemi
|
FG, ID,
hypotonia
|
Patrick S Tarpey
et al. (2009)
|
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)
|
12
|
M
|
-
|
-
|
Ex22
|
c.2129A > G
|
p.(D710G)
|
Mis
|
-
|
ID, nystagmus, strabismus
|
|
13
|
M
|
-
|
-
|
Ex27
|
c.2756T > C
|
p.(W919R)
|
Mis
|
-
|
ID, nystagmus,
epilepsy
|
|
14
|
M
|
-
|
-
|
Ex8
|
c.802T > 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)
|
18
|
F
|
10m
|
Fre
|
In2
|
c.173-2A > C
|
-
|
Frs
|
-
|
ID, small nose, micrognathia,
|
|
19
|
F
|
10m
|
Fre
|
Ex3
|
c.174T > A
|
p.(D58E)
|
-
|
-
|
ID, small nose, micrognathia,
|
|
20
|
F
|
5y
|
Bri
|
In8
|
c.831 + 2T > G
|
-
|
Frs
|
-
|
ID, epilepsy, BCH
|
|
21
|
F
|
2y
10m
|
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)
|
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.1061T > C
|
p.(L348P)
|
-
|
-
|
MICPCH, DD,
epilepsy
|
|
29
|
F
|
24y
|
Jap
|
Ex4
|
c.316C > G
|
p. (R106 *)
|
-
|
-
|
MICPCH, DD, epilepsy
|
Lydie Burglen
et al. (2012)
|
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
6m
|
-
|
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)
|
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)
|
46
|
M
|
4y
|
-
|
Ex2
|
(NG_016754.1: g.17883_129055del
|
deletion 111Mb
|
-
|
-
|
MICPCH, OS, micropenis
|
|
47
|
M
|
4y
|
-
|
Ex1
|
c.1A > G
|
p.(M1V)
|
-
|
Hemi
|
MICPCH, OS,
|
Shin Hayashi
et al. (2012)
|
48
|
F
|
2y
8m
|
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
8m
|
Jap
|
Ex27
|
c.2632C > T
|
p.(Q878*)
|
Non
|
-
|
ID, hyperopia microcephaly
|
|
51
|
F
|
11m
|
Jap
|
Ex3
|
c.243_244delTA
|
p.(Y81*)
|
Frs
|
-
|
microcephaly, ID.
|
|
52
|
F
|
7y
9m
|
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
9m
|
Jap
|
-
|
arrXp11.4p11.3 (41,009,876–44,100,501) x1
|
-
|
-
|
-
|
MICPCH, DD, deafness, hypotonia
|
|
55
|
F
|
2y
|
Jap
|
-
|
arrXp11.4p11.3 (41,337,795–42,468,013) x1
|
-
|
-
|
-
|
MICPCH, DD
|
|
56
|
F
|
12y
|
Jap
|
-
|
arrXp11.4
(41,405,593–41,570,391) x3
|
-
|
-
|
-
|
MICPCH, DD, epilepsy, strabismus
|
|
57
|
F
|
2m
|
Jap
|
-
|
arrXp11.4 (41,382,179–41,540,922) x3 arrXp11.22 (56,012,908–56,275,153) x3
|
-
|
-
|
-
|
MICPCH, DD, epilepsy, hypotonia,
strabismus
|
Nakamura K.
et al. (2014)
|
58
|
M
|
-
|
-
|
Ex3
|
c.227_228del
|
p.(E76Vfs*6)
|
Frs
|
Hemi
|
PCH, TOF, epilepsy
|
JacquesL. Michaud
et al. (2014)
|
59
|
F
|
36m
|
-
|
Ex2
|
c.82C > T
|
p.(R28* )
|
-
|
-
|
ID, cortical and cerebellar atrophy
|
Ute Moog
et al. (2015)
|
60
|
M
|
7m
|
-
|
Ex7
|
c.704_708del
|
p.(K236Efs* 10ex7dn)
|
Frs
|
-
|
MICPCH, ID,
DD, epilepsy, hypotonia
|
|
61
|
M
|
10m
|
-
|
-
|
dup ex10–16dn
|
-
|
-
|
-
|
MICPCH, ID,
DD, epilepsy, hypotonia
|
|
62
|
M
|
5y
|
-
|
-
|
c.1A > G ex1dn
|
-
|
-
|
-
|
MICPCH, ID,
DD, epilepsy, hypotonia
|
|
63
|
M
|
15m
|
-
|
-
|
c.79C > T
|
p.(R27*ex2 dn)
|
-
|
-
|
MICPCH, ID,
DD, epilepsy, hypotonia
|
|
64
|
M
|
7m
|
-
|
-
|
dup ex4–20 mos
|
-
|
-
|
-
|
MICPCH, ID,
DD, epilepsy,
hypertonia
|
|
65
|
M
|
16m
|
-
|
-
|
del ex1mos
|
-
|
-
|
-
|
MICPCH, ID,
DD, hypertonia
|
|
66
|
M
|
29m
|
-
|
-
|
del ex3–9 mos
|
-
|
-
|
-
|
MICPCH, ID, DD
|
|
67
|
M
|
20m
|
-
|
-
|
dup ex1–5 mat
|
-
|
-
|
-
|
Microcephaly, DD
|
Tomoshi Nakajiri
et al. (2015)
|
68
|
F
|
13y
|
Jap
|
Ex21
|
c.1896dupC
|
p.(C633Lfs*2)
|
Frs
|
Hete
|
MICPCH, epilepsy
|
Patrick Rump
et al. (2016)
|
69
|
F
|
22y
|
-
|
-
|
c.2302 + 2T > G
|
-
|
-
|
Hete
|
MICPCH, ID, DD, FD, epilepsy
|
Lucía Rivas
et al. (2017)
|
70
|
F
|
5y
|
-
|
-
|
deletion254.01 Kb
|
-
|
-
|
-
|
MICPCH, WS
|
Shin Hayashi
et al. (2017)
|
71
|
F
|
1y
|
-
|
-
|
c.868G > T
|
p.(E290*)
|
-
|
-
|
MICPCH, DD
|
|
72
|
F
|
5m
|
-
|
-
|
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
4m
|
-
|
-
|
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) x1
|
-
|
-
|
-
|
MICPCH, DD,
epilepsy
|
|
83
|
F
|
4y
|
-
|
-
|
arrXp11.4p11.3
(41,145,925–46,090,321) x1
|
-
|
-
|
-
|
MICPCH,
|
|
84
|
F
|
12y8m
|
-
|
-
|
arrXp11.4p11.3
(41,163,139–44,592,980) x1
|
-
|
-
|
-
|
MICPCH, DD,
glaucoma, PHPV
|
|
85
|
F
|
-
|
-
|
-
|
arrXp11.4
(41,442,660–41,527,850) x3
|
-
|
-
|
-
|
Died
|
Bernt Popp
et al. (2017)
|
86
|
F
|
5y
|
Ger
|
Ex2
|
c.68del
|
p.(F23Sfs*18)
|
Frs
|
-
|
MICPCH, deafness, ID hypertonia
|
Stephanie C.
DeLuca
et al. (2017)
|
87
|
F
|
54m
|
-
|
-
|
c.2221 + 1G > C
|
-
|
-
|
-
|
MICPCH, single- word speech
|
|
88
|
F
|
89m
|
-
|
Ex17
|
c.1609C > T
|
p.(R537*)
|
-
|
-
|
MICPCH
|
|
89
|
F
|
24m
|
-
|
-
|
c.106C > T
|
p.(Q36*)
|
-
|
-
|
MICPCH, DD
|
P. Dunn,
et al. (2017)
|
90
|
M
|
6y
6m
|
-
|
Ex26
|
c.2521-2 A > G
|
-
|
-
|
-
|
FG, nystagmus
|
Toshiyuki Seto
et al. (2017)
|
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)
|
93
|
M
|
14y &
17y
|
Ind
|
-
|
E550_dup
|
Stop gain and in-frame insertion
|
-
|
Hemi
|
microcephaly,
clinodactyly
|
Xiuhua Bozarth
et al. (2018)
|
94
|
F
|
-
|
ME-C
|
-
|
c.2179–2181del GTA
|
p.(V727del)
|
-
|
Hete
|
infantile spasms, nystagmus, strabismus
|
Leslie E. W.
LaConte
et al.(2018)
|
95
|
F
|
12y
|
-
|
-
|
c.1556T > C
|
p.(M519T),
|
Mis
|
-
|
MICPCH,
gait ataxia, nystagmus
|
|
96
|
F
|
5y
|
-
|
-
|
c.1989G > A:
|
p.(G659D)
|
Mis
|
Hete
|
MICPCH
strabismus
|
|
97
|
F
|
9y
|
-
|
-
|
c.626T > C
|
p.(L209P)
|
-
|
-
|
MICPCH, ID,
motor disability
|
Hiroaki Murakami
et al. (2019)
|
98
|
F
|
5y
|
-
|
-
|
c.2041C > T
|
p.(R681*)
|
Non
|
-
|
microcephaly, BCH, DD, hypotonia
|
Francesca Cristofoli
et al. (2019)
|
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)
|
103
|
M
|
3m
27d
|
Chi
|
Ex20
|
c.1818_1821dup AACT
|
p.(T608Nfs* 16)
|
Frs
|
Hemi
|
MICPCH, DD, FD, hypertonia
|
Presented case
(2020)
|
104
|
M
|
18d
|
Chi
|
Ex8
|
c.764G > A
|
p.(R255H)
|
Mis
|
Hemi
|
microcephaly,
ID, DD, epilepsy, deafness
|