XLMR Slides powerpoint

1
Syndromal XLMR (linkage limits)
FGS3 (?)
Bertini
Aicardi
22
CMT, lonasescu variant


21
MEHMO
Prieto
FGS4 (? CASK)
11
XLMR-blindness-seizures-spasticity
XLMR-macrocephaly
Wieacker-Wolff
11
Miles-Carpenter
12
X-linked spastic paraplegia, type 7
13
XLMR-arch fingerprints-hypotonia
Goldblatt spastic paraplegia
Wilson-Turner
Shrimpton
XLMR-macrocephaly-macroorchidism
Abidi
21
Ahmad MRXS7 XLMR-symphalangism-hearing
loss-immunodeficiency
22
FGS5 (?)
XLMR-hypogammaglobulinemia
23
24
Gustavson

Vitale aphasia-coarse facies
25
CMT, Cowchock variant
XLMR-panhypopituitarism
Christian
26
Craniofacioskeletal
X-linked hypoparathyroidism
27
XLMR-coarse facies

XLMR-microcephaly-testicular failure
28
Armfield
FGS2 (?FLNA)
Waisman-Laxova

Hereditary bullous dystrophy

Greenwood Genetic Center, updated July 2009
2
Nonsyndromal XLMR
24
37
13
49
2
NLGN4
73
STK9
AP1S2 (59)
RSK2 (19)
85
ARX (29,32,33, 36,38,43,54,76)
10
11
IL1RAPL1 (21,34)
12
15
18
56
20
26
22
5
14
39
78
1
74
TM4SF2 (58)
ZNF41 (89)
50
51
42
81
84
ZNF674 (92)
7
65
ZNF81 (45)
11.23
PQBP-1 (55)
FTSJ1 (9,44)
11.22
69
HUWE1 (17, 31)
52
JARID1C
11.21
FGDY
KLF8, ZNF741
OPHN1 (60)
4
77
67
61
DLG3 (8, 90)
MCT8, SLC16A2
NLGN3
40
ZDHHC15 (91)
XNP
IAP
35
53
80
66
SRPX2
23
70
FACL4, ACSL4 (63,68)
AGTR2 (88)
PAK3 (30,47)
27
57
82
75
71
NDUFA1
UPF3B (62)
42
3
ARHGEF6, ?PIX (46)
6
25
28
MRX64 is due to a dup MECP2 MRX17 and
MRX31 are due to dup HUWE1 and 2 adjacent
genes MRX42 has 2 localizations p11.3-q13.1
and q26
72
MECP2 (16,64,79)
SLC6A8
GDI1 (41, 48)
Greenwood Genetic Center, updated July 2009
3
Oral-facial-digital I (OFD1)
Syndromal XLMR genes
Autism (NLGN4)
X-linked VACTERL-hydrocephalus (FANCB)
Telecanthus-hypospadias (MID1)
(AP1S2)
Turner, XLMR-hydrocephaly- basal ganglia
calcification
MIDAS (HCCS)
XLMR-infantile seizures, Rett like (STK9)
Coffin-Lowry (RSK2)
Spermine synthase deficiency (SMS)
Nance-Horan (NHS)
Ichthyosis follicularis, atrichia, photophobia
(MBTPS2)
Pyruvate dehydrogenase deficiency (PDHA1)
Partington, West, Proud, XLAG (ARX)
Glycerol kinase deficiency (GKD)
Duchenne muscular dystrophy (DMD)
Norrie (NDP)
Ornithine transcarbamylase deficiency (OTC)
OFCD, Lenz microphthalmia (BCOR)
XMRE (Renin receptor ATP6AP2)
Monoamine oxidase-A deficiency (MAOA)
Turner macrocephaly (HUWE1)
11.23
Goltz (PORCN)
11.22
XLMR-choreoathetosis (HADH2)
X-linked Cornelia de Lange (SMC1L1, SMC1A)
11.21
Epilepsy/macrocephaly (SYN1)
Aarskog (FGDY)
Stocco dos Santos (KIAA1202)
XLMR-cleft lip/palate (PHF8)
XLMR-cerebellar dysgenesis (OPHN-1)
Graham coloboma (IGBP1)
Opitz-Kaveggia FG, Lujan (MED12, HOPA)
Menkes disease (ATP7A)

Phosphoglycerate kinase deficiency (PGK1)
Allan-Herndon (MCT8, SLC16A2)
XLMR-Hypotonic Facies
Cantagrel spastic paraplegia (KIAA2022)
?-thalassemia mental retardation,
Carpenter-Waziri, Holmes-Gang, Chudley Lowry,
Juberg-Marsidi(?), Smith-Fineman-Myers(?)
XLMR-macrocephaly-large ears (BRWD3)
(XNP, XH2)
XLMR-hyperekplexia-seizures (ARHGEF9)
Mohr-Tranebjaerg (DDP, TIMM8A)
XLMR-short stature-muscle wasting (NXF5)
Pelizaeus-Merzbacher (PLP)
Epilepsy-mental retardation limited to females
(PCDH19)
Arts, PRPP synthetase superactivity (PRPS1)
X-linked lissencephaly (DCX)
Mitochondrial encephalopathy (NDUFA1)
XLMR-optic atrophy (AGTR2)
Danon cardiomyopathy (LAMP2)
FG/Lujan phenotype (UPF3B)
XLMR-hypogonadism-tremor (CUL4B)
XLMR-nail dystrophy-seizures (UBE2A)
Chiyonobu XLMR (GRIA3)
Lowe (OCRL1)
XLMR-macrocephaly-Marfanoid habitus (ZDHHC9)
Börjeson-Forssman-Lehmann (PHF6)
Simpson-Golabi-Behmel (GPC3)
XLMR/growth hormone deficiency (SOX3)
Christianson, Angelman-like (SLC9A6)
Lesch-Nyhan (HPRT)
Fragile XA (FMR1)
Mucopolysaccharidosis IIA (IDS)
X-linked hydrocephaly-MASA spectrum (L1CAM)
(FLN1, FLNA)
Myotubular myopathy (MTM1)
Periventricular nodular heterotopia,
Otopalatodigital 1, Otopalatodigital 2,
Melnick-Needles
Adrenoleukodystrophy (ABCD1)
Rett, PPM-X (MECP2)
Incontinentia pigmenti (NEMO, IKBKG)
Autism (RPL10)
Dyskeratosis congenita (DKC1)
Creatine transporter deficiency (SLC6A8)
Greenwood Genetic Center, updated July 2009
XLMR-hypotonia-recurrent infections (MECP2 dup)