Table S3 – Listing of nonspecific X-linked MR conditions (MRX). This table is divided into three
sections: (a) a list of 16 cloned genes responsible only for MRX; (b) a list of genes that
are involved in syndromic or neuromuscular forms as well as in MRX; (c) a list of all
families with an MRX number assigned by the HUGO Gene Nomenclature Committee
(http://www.gene.ucl.ac.uk/nomenclature/). MRX pedigrees are indicated in red when the
causative gene was identified and are indicated in blue when unpublished. In both cases
they were not counted in Table 1.
(a) Genes that cause MRX only
OMIM
Protein name
Locus
Gene
mutated in MRX pedigrees:
300034
*300267
300189
Angiotensin rec. 2
PIX
Discs large homolog 3
Xq23
Xq26.3
Xq13.1
MRX88
MRX46
MRX90
*300157
fatty acid-CoA ligase 4
Xq23
309548
*300499
300104
AFF2 protein
FTSJ homolog 1
RABGDIA
IL1 receptor accessory
protein
neuroligin 3
neuroligin 4
P21 Act. Kinase 3
Ribosomal protein L10
tetraspanin
zinc-finger 41
zinc-finger 81
zinc-finger 674
Xq28
Xp11.23
Xq28
AGTR2 +300034
ARHGEF6 *300267
DLG3 +300189
ACSL4 (FACL4)
*300157
FMR2 +309548
FTSJ1 *300499
GDI1 +300104
Xp21.2
IL1RAPL1 *300206
MRX10,21,34
Xq13
Xp22.3
Xq23
Xq28
Xp11.4
Xp11.3
Xp11.23
Xp11.3
NLGN3 *300336
NLGN4 *300427
PAK3 *300142
RPL10 *312173
TM4SF2 *300096
ZNF41 +314995
ZNF81 *314998
ZNF674 +300573
*300206
*300336
*300427
300142
*312173
*300096
314995
*314998
300573
MRX63,68
MRX9,44
MRX41,48
MRX30,47
MRX58
MRX89
MRX45
MRX92
(b) Genes that cause specific XLMR and MRX
OMIM
Condition
Locus
Gene
305400
Aarskog-Scott
Xp11.22
#300523
Allan-Herndon-Dudley
Xq13.2
*300032
ATR-X
Xq13.3
*300127
Cerebellar ataxia
Xq12
*300075
Coffin-Lowry
Xp22.1
FGD1 *300546
SLC16A2/MCT8
*300095
ATRX (XNP)
*300032
OPHN1 *300127
RSK2 (RPS6KA3)
*300075
*300036
Creatine transporter
deficiency
Xq28
*314690
JARID1C-related XLMR
Xp11.22
*300005
Rett
*300463
SutherlandHaan/MRXS3
#300630
Turner
[1]
Turner
Xp22.2p21.2
Xp11.22
#300676
MRXS14 (FGS6)
*300382
West, infantile spasms
mutated in MRX pedigrees:
MRX22
MRX60
MRX19
SLC6A8 *300036
Xq28
JARID1C / SMCX
*314690
MECP2 +300005
MRX16,79
Xp11.23
PQBP1 +300463
MRX55
AP1S2 *300629
MRX59
HUWE1
missense in 2 families [2]
Xq24
UPF3B *300298
missense in 1 family [3]
Xp22.1
ARX *300382
MRX29,32,33,36,38,43,54,76,87
(a)
(b)
(c)
(c) MRX families with HUGO Gene Nomenclature Committee number
OMIM
/Ref.
MRX family
number
Locus
*309530
MRX1
Xp11.3-q12
%300428
MRX2
Xp22.2 -p22.1
#309541
MRX3
Xq28
[4,5]
MRX4
Xp11.22-q21.3
[6]
MRX5
Xp11.4-q21.2
[7]
MRX6
Xq27
[8,9]
[10,11]
#309549
MRX7
MRX8
MRX9
Xp11.23-q12
Xp11.2-q13
Xp11.4-p11.22
[12-14]
MRX10
Xp21.3-p11.4
[12,13]
MRX11
Xp21.1-p11.4
[12,13]
MRX12
Xp21.2-p11.21
[12]
300062
MRX13
MRX14
Xp22.3-q22.3
Xp11.3-q13.2
[15]
MRX15
Xp21.1-p11.22
#300458
MRX16
Xq28
[16,13,14]
MRX17
Xp11.2-q12
[16]
MRX18
Xp21.2-p11.23
*300075
MRX19
%300047
MRX20
Xp11.4-q21.3
#300143
MRX21
Xp22.3-p21.1
IL1RAPL1
*300206
Heterozygote manifestation
[17-19]
MRX22
Xp21.1-q21.31
SLC16A2 /
MCT8 *300095
Severe generalized muscle
atrophy, hypotonia,
incontinence
%300046
MRX23
Xq23-q24
[20]
MRX24
Xp22.32-p22.2
[21]
[22]
MRX25
MRX26
Xq27.3-qter
Xp11.3-q21.33
[23]
MRX27
Xq23-q26.3
[24]
[25] &
%300077
#300558
MRX28
Xq28
MRX29
Xp22.12-p11.4
[26,14]
MRX31
Xp11.23-q13
[27,25]
[24,25]
MRX32
MRX33
Xp22.2-p21.3
Xp22.12 -p11.4
Gene
notes
Macrocephaly, square face,
macroorchidism, short stature
Speech delay, learning
disability
Speech delay, hyperactivity,
Short stature, “coarse” face,
short broad hands and feet,
heterozygote manifestation
FTSJ1 *300499
IL1RAPL1
Hypotelorism, large ears,
*300206
heterozygote manifestation
Hypotelorism, large ears,
heterozygote manifestation
Hypotelorism, large ears, low
birth weight, short stature
Large ears
Congenital hypotonia, delayed
speech, thin habitus, scoliosis
MECP2
+300005
duplication
Xp11.2
duplication including HADH2
and HUWE1 [2]
RSK2
(RPS6KA3)
*300075
MRX30
Slightly “coarse” face, small
head circumference
Heterozygote manifestation
Growth failure, mutism,
seizures, brachycephaly,
square face
ARX *300382
PAK3 *300142
duplication
Xp11.2
ARX *300382
ARX *300382
duplication including HADH2
and HUWE1 [2]
[28]
MRX34
Xp21.2
[29]
#300419
[30]
[31,25]
MRX35
MRX36
MRX37
MRX38
[32]
MRX39
[33]
MRX40
Xq22.1-q26.1
Xp22.32 -p21.1
Xp22.32 -p22.31
Xp22.13 -p21.1
Xp11
(no linkage)
Xq21
(no linkage)
+300104
MRX41
MRX42
#300419
#309549
#300498
MRX43
MRX44
MRX45
#300436
MRX46
#300558
+300104
*300114
%300115
[34]
[35]
%300324
#300419
MRX47
MRX48
MRX49
MRX50
MRX51
MRX52
MRX53
MRX54
Xp22.33-p22.2
Xp11.4-p11.21
Xp11.4-p11.3
Xp11.21-q21.32
Xq22.2-q26
Xp22.1-p21.3
#309500
MRX55
Xp11.4-q12
MRX56
MRX57
Xp21.1-p11.21
Xq24-q25
MRX58
Xp11.3-q13.1
MRX59
Xp22.2-p21.2
#300630
#300486
MRX60
[14]
[14]
MRX61
MRX62
Xq13.1-q25
Xq21.33-q25
#300387
MRX63
Xq22.1-q23
[37]
[14]
[14]
MRX64
(see Pai et al.
in Table S2)
MRX65
MRX66
MRX67
*300157
MRX68
Xq22.1-q23
MRX69
MRX70
MRX71
MRX72
MRX73
MRX74
MRX75
MRX76
MRX77
Xp11.21-q22.1
Xq23-q25
Xq24-q27.3
Xq28
Xp22.2
Xp11.3-p11.4
Xq24-q26.3
Xp22.2-p21.3
Xq12-q22.2
[36]
[14]
%300271
%300355
[38]
%300454
Heterozygote manifestation
ARX *300382
ARX *300382
Macrocephaly, seizures
Sporadic cases with
X/autosome translocations
Microdeletions
GDI1 +300104
pericentromeric/
Xq26
Xp22.3-p21.2
Xp11.3-p11.2
Xp11.3-p11.2
%300372
#300210
IL1RAPL1
*300206
Xq28
ARX *300382
FTSJ1 *300499
ZNF81 *314998
ARHGEF6
*300267
PAK3 *300142
GDI1 +300104
ARX *300382
PQBP1
+300463
TM4SF2
*300096
AP1S2
*300629
OPHN1
*300127
ACSL4
(FACL4)
*300157
duplication
MECP2L1CAM
Xp11.23-Xq21.32
Xq21.33-q23
Xq13.1-q21.31
ACSL4
(FACL4)
*300157
ARX *300382
Epicanthus, high nasal bridge,
small mouth, seizures, early
demise
[39]
MRX78
Xp11.4-q21.1
#300458
MRX79
Xq28
[40]
%300433
%300518
Xq22-q24
Xp11.2-q12
Xq24-q25
unpublished
Xp11.3-q22.3
Xp21.3-p21.1
unpublished
[41]
MRX80
MRX81
MRX82
MRX83
MRX84
MRX85
MRX86
MRX87
+300034
MRX88
+314995
MRX89
+300189
MRX90
#300577
MRX91
+300573
MRX92
%300505
[14]
unconfirmed
MECP2
+300005
ARX *300382
AGTR2
+300034
ZNF41
+314995
DLG3 +300189
ZDHHC15
*300576
ZNF674
+300573
t(X;15)(q13.3;cen) in a female
patient
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