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. 2016 Feb;8(2):a019497. doi: 10.1101/cshperspect.a019497

Table 1.

Selected disorders of genomic imprinting

Disorder Type of mutation (% frequency where known) Genomic region (cluster name) Gene(s) involved
Prader–Willi syndrome

  • Deletion (70%)

  • Maternal UPD (25%)

  • Imprint defect (2%–5%)

 15q11-q13
(Pws cluster)		 snoRNAs and other (?)
Angelman syndrome

  • Deletion (70%)

  • Paternal UPD (2%–5%)

  • Epimutation (2%–5%)

  • Point mutation

  • Duplicationa

 15q11-q13
(Pws cluster)		 UBE3A
Beckwith–Wiedemann syndrome

  • Epimutation

  • Loss of maternal ICR2/Kcnq1 methylation

  • Gain of H19 methylation (5%)

  • Paternal UPD for Igf2 cluster

  • 11p15.5 duplication including Igf2

  • Translocation at KCNQ1 maternal

  • Point mutation (CDKN1C)

 11p15.5
(Kcnq1 and Igf2 cluster)		 IGF2, CDKNIC
Silver–Russell syndrome

  • UPD, maternal (10%)

  • Duplication

  • Translocation, inversion

 7p11.2
(Grb10 cluster)		 Several candidates in the region

  • Epimutation, loss of paternal ICR1 methylation (40%)

 11p15.5
(Kcnq1 cluster)		 Biallelic expression of H19 and decrease of IGF2
Pseudohypoparathyroidism

  • Point mutation

  • Imprint defect

  • UPD, paternal

 20q13.2
(Gnas cluster)		 GNAS1

snoRNAs, small nucleolar RNAs; CDKN1C, cyclin-dependent kinase inhibitor; UBE3A, ubiquitin E3 ligase gene.

a Maternal duplications, trisomy, and tetrasomy for this region cause autism and other developmental abnormalities.