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Xq28-mapped diseases and favoured candidate genes. |
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| OMIM ID |
Disease linked to Xq28 |
Candidate region |
Potential affected tissues |
Candidate genes |
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| 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 |
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Columns one and two list those Xq28-mapped diseases, for which the causative gene has not yet been identified. Flanking genetic markers of disease regions are shown in the third column. Potentially affected tissues (column four) have been selected according to phenotypic descriptions within the OMIM database. Column five lists candidate genes that have been identified by matching affected tissues with RNA in situ hybridisation patterns using the query options of our web-accessible database, and combining with information on the chromosomal location of the genes and diseases. Genes with best matches are shown in bold. | ||||
Kolb-Kokocinski et al. BMC Genomics 2006 7:29 doi:10.1186/1471-2164-7-29 |
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