Table 1.
Authors | Bastepe et al. [15] | Lecumberri et al. [22] | Bastepe et al. [16] | Fernandez-Rebollo et al. [18] | Dixit et al. [17] | |||||
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 1 | Patient 2 | |||||
Frequency | Case report | Case report | 1/22 (4.5%) | 4/20 (20%) | Cases reports | |||||
Upd(20)pat type | Upd(20q) | Upd(20q) | Upd(20) | Upd (20q13.13-qter) | iUPD(20q) | HUPD(20p), iUPD +putative HUPD (20) (q13.33q23) | Upd(20q13.13-qter) | Upd(20q12-q13.33-qter) | Upd(20q13.31-q13.32) | |
Method | STR | STR | SNPs + 100K SNP array |
STR, SNP array | STR analysis; SNP array |
|||||
GNAS TSS-DMRs methylation analysis | Methylation-sensitive restriction enzyme | MS-MLPA | ND | MS-MLPA | Methylation-specific PCR | |||||
GNAS-NESP: TSS-DMR | GoM | |||||||||
GNAS-AS 1: TSS-DMR | LoM | |||||||||
GNAS-XL: Ex1-DMR | LoM | |||||||||
GNAS A/B:TSS-DMR | LoM | |||||||||
Sex | M | M | F | F | M | M | M | M | M | |
Age at diagnosis (years) | 5 | 9 | 3.5 | 26 | 9 | 5 | 46 | 14.5 | 5.5 | |
Weight at birth (percentile) | ND | 50–75 | 25–50 | |||||||
Weight at diagnosis (SD) | + 3.4 | −1 | + 2 | −0.1 | −0.92 | + 5.5 | + 1.5 | + 0.75 | + 2 | |
Height at diagnosis (SD) | + 3.6 | −2 | > + 2 | −1 | −1.6 | + 2 | −2 | 0 | −2 | |
AHO signs | − | + | − | − | + | − | ND | − | ND | |
Maternal age at conception (years) | 39 | ND | 27 | 31 | 33 | ND | ||||
Paternal age at conception (years) | ND | 27 | 32 | 33 | ND | |||||
Authors | Takatani et al. [21] | Park et al. [20] | Jin et al. [19] | This paper | ||||||
Patient 1 | Patient 2 | 1 | 2 | 3 | 4 | 5 | 6 | |||
Frequency | 2/23 (8,7%) | Case report osteosarcoma | 1/7 (14%) | 6/33 (18.2%) | ||||||
Upd(20)pat type | Upd(20q) | Upd(20q) | Upd(20q) | Upd(20) | Upd(20q) | Upd(20) | Upd(20) | Upd (20) | Mixed HUPD/iUPD | |
Method | SNPs GNAS + STR | STR | STR | CGH/SNP array | STR + SNP array | |||||
GNAS TSS DMRs methylation analysis | MS-MLPA | |||||||||
GNAS-NESP: TSS-DMR | GoM | 97% | 91% | 101% | 97% | 98% | 95% | |||
GNAS-AS 1: TSS-DMR | LoM | 0% | 0% | 0% | 3% | 3% | 0% | |||
GNAS-XL: Ex1-DMR | LoM | 0% | 0% | 1% | 2% | 2% | 0% | |||
GNAS A/B:TSS-DMR | LoM | 0% | 0% | 0% | 0% | 0% | 0% | |||
Sex | M | F | M | M | F | M | M | F | F | M |
Age at diagnosis (years) | 12 | 7 | 21 | 8 | 33 | 42 | ND | 27.5 | 10 | 4 |
Weight at birth (percentile) | ND | > 90 | ND | 75−90 | 10 | 50–75 | ||||
Weight at diagnosis (SD) | + 0.6 | + 1.2 | −1 | + 1 | + 0.5 | > +3 | ND | 0 | + 3 | |
Height at diagnosis (SD) | + 1.5 | + 1.2 | −1.5 | + 0.45 | −1 | + 0.5 | ND | −1.5 | + 1 | 0 |
Symptoms of AHO | − | − | − | − | − | − | ND | + | − | − |
Maternal age at conception (years) | 30 | ND | 19 | ND | 36 | 26 | ||||
Paternal age at conception (years) | 28 | ND | 22 | ND | 44 | 30 |