Table 1 Summary of altered regions, parental analysis and major clinical features in patients with velocardiofacial-like syndrome (VCFS-like) validated by multiplex ligation-dependent probe amplification (MLPA).
Sample GAIN | Sample LOSS | Altered clones | Region | Size kb | Start (Build 36) | End (Build 36) | Genes | LOCUS (DGV) | MLPA probes | Inheritance | Clinical features |
|---|---|---|---|---|---|---|---|---|---|---|---|
V5 | RP11-315I20 RP11-293J20 | 1q21.1 | 212 | 144149999 | 144361868 | TXNIP, POLR3GL, ANKRD34, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, ZNF364 | Locus 0305 | GNRH2 PIAS3 | de novo | Cardiac anomalies (coarctation of the aorta); Velopharyngeal insufficiency; dysmorphic facial features; language impairment, mental retardation, cognitive and learning problems, immunological abnormalities. | |
V5 | RP11-337C18 RP11-533N14 RP11-314N2 RP11-301M17 RP11-115G11 | 1q21.1 | 1,150 | 145073765 | 146329018 | PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPRB9 | Locus 0305 | BCL9 NBPF1 | de novo | ||
V26 | RP11-314P12 RP11-292F22 RP11-192A16 RP11-30N1 RP11-115A11 | 10q11.22 | 743,52 | 46487806 | 47231326 | PPYR1, ANXA8L, CTGLF4 | Locus 2984 | PPYR1 | Paternal | Mild dysmorphic facial features, mild mental retardation, psychological anomalies, phobias | |
V8 | V24 | RP11-818K20 RP11-444L7 | 22q11.21 | 159 | 19847992 | 20006849 | - | Locus 4746 | RP11-444L7 | Both Paternal | V8: Dysmorphic facial features, learning disabilities mental retardation, father with schizophrenia V24: Overt submucos palate, mild facial dysmorphic features, mild mental retardation, learning disabilities, autistic behaviour, (brother with cardiac anomalie) |
V11 | RP11-138G4 | 22q13.2 | 142 | 39422672 | 39564831 | SLC25A17, ST13 | SLC25A17b | Maternal | Dysmorphic facial features, learning disabilities, language impairment, attention deficit disorder |