Table 2 Xq28-mapped diseases and favoured candidate genes.

311510

PARKINSONISM, EARLY-ONSET, WITH MENTAL RETARDATION;

WAISMAN SYNDROME (WSN)

DXS1684-Xqter

brain: substantia nigra, basal ganglia, white matter,

frontal cortex, adrenal glands

ATP6AP1, STK23, NSDHL, HCFC1, RPL10, PDZK4, SLC6A8, IDH3G, BCAP31, IRAK1, HCBP6, IKBKG

314400

CARDIAC VALVULAR DYSPLASIA, X-LINKED (CVD1)

DXS8011-Xqter

heart: myocardium, valves, joints, cartilage

STK23

309541

MENTAL RETARDATION, X-LINKED 3 (MRX3)

DXS52-Xqter

brain

HCFC1, SLC6A8, ATP6AP1, IDH3G, BCAP31, STK23, PDZK4, IRAK1, RPL10, IKBKG, HCBP6

310440

MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (XMEA)

DXS8103-DXS1108

peripheral nervous system, muscle

STK23

314300

TORTICOLLIS, KELOIDS, CRYPTORCHIDISM,

AND RENAL DYSPLASIA (TKCR)

G6PD-Xqter

brain, testis, embryo: kidney

ATP6AP1, NSDHL, RPL10, FAM3A

310460

MYOPIA 1 (MYP1)

F8-Xqter

brain: midbrain, brain stem,

eye: retina, lens

NSDHL, BGN

300261

ARMFIELD X-LINKED MENTAL RETARDATION

SYNDROME (MRXSA)

Xq28

brain, embryo: skeleton

IDH3G, RPL10, SSR4, PDZK4

300260

LUBS X-LINKED MENTAL RETARDATION

SYNDROME (MRXSL)

DXS8103- 5CM

brain, muscle

STK23

309620

MENTAL RETARDATION, SKELETAL DYSPLASIA,

AND ABDUCENS PALSY;

CHRISTIAN SYNDROME (CHRS)

DXS52-DXS15

brain, joints, cartilage, spinal cord,

embryo: skeleton, pancreas, liver

NSDHL

300048

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL,

CHRONIC IDIOPATHIC, X-LINKED (IPOX)

DXS15-DXS1108

intestinal tract: innervation, wall,

colon, blood, embryo

RPL10, FLNA, RENBP, ATP6AP1,

300388

POLYMICROGYRIA, BILATERAL PERISYLVIAN (BPP)

DXS8103-Xqter

brain: hippocampus, midbrain, brain stem,

temporal cortex, parietal cortex

BCAP31, IDH3G, HCFC1, IKBKG, SLC6A8, PDZK4,

300321

FG SYNDROME 2 (FGS2)

Xq28

brain: white matter, motor cortex, stem ganglia,

corpus callosum, central

and peripheral nervous system, embryo: brain

IDH3G, CD99L2, FAM11A,

300244

TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS (ODPD)

Xq27.3-q28

bone, eye, skin,

SSR4 , RPL10, BGN

300271

MENTAL RETARDATION, X-LINKED 72 (MRX72)

DXS1073-F8c

brain

no gene with matched expression pattern

is located within or near linkage area

301590

ANOPHTHALMOS, CLINICAL (ANOP1)

Xq27-q28

bony orbits, brain, skin

HCFC1, ATP6AP1, CD99L2, IDH3g, PDZK4, FAM11A

309200

MAJOR AFFECTIVE DISORDER 2 (MAFD2)

Xq28

brain

HCFC1, SLC6A8, ATP6AP1, CD99L2, IDH3G, PDZK4, FAM11A

309800

MICROPHTHALMIA WITH ASSOCIATED ANOMALIES (MAA)

Xq27-q28

eye, bone, urogenital, heart, teeth

SSR4, RPL10, IDH3g, STK23