Table 3.
Clinical and molecular genetics data of 8p microdeleted patients described in the DECIPHER database [29].
| DECIPHER Patients | TOTAL NUMBER OF PATIENTS | |||||||||
| 253667 | 277848 | 288405 | 294526 | 295087 | 338097 | 337882 | 351690 | 391615 | ||
| Age at diagnosis | 8 | 5 | nd | nd | 10 | nd | <1 | 13 | nd | |
| Sex | F | M | nd | M | F | M | M | M | M | |
| Coordinates (GRCh37/hg19) | chr8:1588355-1656051 | chr8:176814-1734772 | chr8:738801-1369613 | chr8:1111157-2908829 | chr8:191560-5353580 | chr8:974820-2067679 | chr8:1731454-1853939 | chr8:194617-2170951 | chr8:907664-1368668 | |
| Size | 68 kb | 1.56 Mb | 633 kb | 1.80 Mb | 5.16 Mb | 1.09 Mb | 122 kb | 1.98 Mb | 463 kb | |
| Inheritance | inherited (parent with the same phenotype) |
maternal | de novo | maternal | ||||||
| Coding gene(s) content | DLGAP2 |
ZNF596, FBXO25, TDRP, ERICH1, DLGAP2, CLN8 |
DLGAP2 | DLGAP2, CLN8, ARHGEF10, KBTBD11, MYOM2, CSMD1 |
ZNF596, FBXO25, TDRP, ERICH1, DLGAP2, CLN8, ARHGEF10, KBTBD11, MYOM2, CSMD1 |
DLGAP2, CLN8, ARHGEF10, KBTBD11, MYOM2 | CLN8, ARHGEF10 |
ZNF596, FBXO25, TDRP, ERICH1, DLGAP2, CLN8, ARHGEF10, KBTBD11, MYOM2 |
DLGAP2 | |
| ID | + | Learning disability | + | + | + | + | + | 13/21 | ||
| DD | 9/21 | |||||||||
| Language and speech delay | + | 7/21 | ||||||||
| Motor impairment | 5/21 | |||||||||
| ASD | + | 6/21 | ||||||||
| Behavioral problems/ADHD | + | ADHD | 8/21 | |||||||
| Microcephaly | + | 6/21 | ||||||||
| Fingers/toes anomalies | Clinodactyly of the 5th finger | Short phalanx of fingers, sandal gap | Short middle phalanx finger | 6/21 | ||||||
| Dysmophisms | Epicanthus | 8/21 | ||||||||
| Epilepsy | + | 4/21 | ||||||||
| Other | Spotty hyperpigmentation | Coarctation of the aorta | ||||||||
| Other CNVs (GRCh37/hg19)/ additional genetic data |
4q26 duplication coordinates 119606253-120003254 |
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The information for each patient includes: age at diagnosis, sex, 8p microdeletion coordinates (assembly GRCh37/hg19) and size, inheritance, gene content, clinical features and other additional genetic/genomic data. The number of patients showing a clinical feature compared to the total number of patients (present work, literature and DECIPHER patients) is indicated in the last column. Main candidate genes are displayed in bold characters. “+” means present; “−” means absent; empty cells: data not available. ADHD: attention deficit and hyperactive disorder; ASD: autism spectrum disorders; chr: chromosome; CNV: copy number variant; DD: developmental delay; ID: intellectual disability.