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Table 2 Pathogeneses of four imprinting disorders

From: Association of four imprinting disorders and ART

   UPD Gene mutations Deletions DNA methylation errors
BWS (n = 43) ART (n = 4) 100% (4/4)*
Sp (n = 39) 46.2% (18/39) 2.6% (1/39) 7.7% (3/39) 43.6% (17/39)
AS (n = 147) ART (n = 4) 100% (4/4)
Sp (n = 143) 2.1% (3/143) 3.5% (5/143) 92.3% (132/143) 2.1% (3/143)
PWS (n = 366) ART (n = 21) 42.9% (9/21)* 28.6% (6/21) 28.6% (6/21)
Sp (n = 345) 13.3% (46/345) 73.6% (254/345)* 13.0% (45/345)
SRS (n = 22) ART (n = 5) 100% (5/5)
Sp (n = 17) 23.5% (4/17) 76.5% (13/17)
  1. The numbers and percentages of patients with chromosomal abnormalities, gene mutations, and methylation abnormalities were obtained from a questionnaire. An asterisk indicates a significant difference between ART-patients and Sp-patients (p < 0.05). For BWS, UPD, and gene indicate paternally uniparental disomy of chromosome 11 and CDKN1C, and methylation errors include both gain of methylation at H19/IGF2 IG-DMR and loss of methylation at KCNQ1OT1:TSS-DMR, respectively. For AS, UPD, gene, and methylation error indicate paternally uniparental disomy of chromosome 15, UBE3A and loss of methylation at SNRPN-DMR, respectively. For PWS, UPD, and methylation error indicate maternally uniparental disomy of chromosome 15 and gain of methylation at SNRPN-DMR, respectively. For SRS, UPD, and methylation error indicate maternally uniparental disomy of chromosome 7 and loss of methylation at H19/IGF2 IG-DMR, respectively. UPD uniparental disomy