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. Author manuscript; available in PMC: 2019 Jul 18.
Published in final edited form as: Bone. 2019 Mar 21;123:145–152. doi: 10.1016/j.bone.2019.03.023

Table 1.

Clinical and epigenetics features with parental age at conception of patients with spor-PHP1B due to upd(20)pat reported in the literature and comparison with our patients. upd(20)pat: paternal disomy at chromosome 20; ND: not determinated.

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