Table 1 Patients with mental retardation and imbalances detected with the X-chromosome tiling path BAC array not identified in control samples
Case | Region | Gain/loss | Size kb | Origin | Phenotype | Altered clones | Affected genes | Confirmatory studies |
|---|---|---|---|---|---|---|---|---|
Known | ||||||||
1 | Xp11.4 | Loss | 400 | Inherited | OTC deficiency, neurological deterioration | RP13-486L5, RP11-401A21, RP11-727P7, CTD-2135N1, RP11-416I6, RP11-604A4 | RPGR, OTC, TMSF4 (TSPAN7), SRPX | Arranz et al., 2007 |
2 | Xp11.3 | Loss | 1Mb | Inherited | Norrie disease, severe psychomotor retardation, epilepsy, microcephaly, | RP11-558I17, RP11-561O22, RP11-643D7, RP11-455O7, RP11-72J3, RP11-291H16, RP11-355O20, RP11-11B9, RP11-634A3, RP11-110B2, RP11-605I23 | NDP, MAOA, MAOB, EFHC2 | Rodriguez-Revenga et al., 2007 |
Causal | ||||||||
3 | Xq12 | Loss | 82 | Inherited | Severe MR, strabismus, cerebellar hypoplasia, Dandy-Walker malformation, prominent chin, high nasal root | RP11-586C9, RP11-466E18 | OPHN1 | MLPA PCR |
4 | Xp22.12 | Gain | 800 | Inherited | Mild MR, Robust built, dyslexia, facial dysmorphism | RP11-191B9, RP11-393H10, RP11-382L18, RP11-254G9, RP11-367L17, RP11-203E14, RP11-703P16, RP11-48D14, RP11-712B24, RP11-158M19 | RPS6KA3, CXorf23, EIF1AX | MLPA |
5 | Xq28 | Gain | 700 | Inherited | Severe MR, psychomotor retardation, hypotonia, | RP11-54I20, RP11-437K1, RP11-314B3, RP11-398P14, RP11-846A22, RP11-617G6, RP11-485N14, RP11-119A22, RP11-333O6, RP11-330B2, CTD-2238E23 | SLC6A8, PLXNB3, L1CAM, MECP2, IRAK1, ARHGAP4, OPN1MW, CXorf2, TKTL1, PDZK4, ABCD1, PNCK, DUSP9, FAM58A, ATP2B3 | MLPA |
6 | Xq28 | Gain | 250 | Inherited | Moderate MR, facial dysmorphism, microcephaly, | RP11-666B23, RP11-316P8, CTD-2511C7, CTD-2242O14, RP11-696D6, RP11-103M23 | GDI1, FLNA EMD, TAZ, TKTL1, RPL10, DNASE1L1 | MLPA RT-PCR |
Causal? | ||||||||
7 | Xp11.22 | Gain | 420 | Inherited | Moderate MR | RP11-390E18, RP11-585D6, RP11-555J12, RP11-272G22, RP13-444K19 | HUWE1, PHF8? | MLPA |
8 | Xq12 | Gain | 350 | ND | Moderate MR | RP11-414C19, RP13-547B18, RP11-655E9, RP11-715J23 | EDA2R | MLPA |