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Table 2 Xq28-mapped diseases and favoured candidate genes.

From: The systematic functional characterisation of Xq28 genes prioritises candidate disease genes

OMIM ID Disease linked to Xq28 Candidate region Potential affected tissues 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
  1. 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.