. 2023 Aug 25;28(8):3182–3193. doi: 10.1038/s41380-023-02208-7

Table 3.

Molecular basis of Prader–Willi syndrome (PWS)/Angelman syndrome (AS).

Chromosome location	Imprinting disorder	Molecular defects (frequency)	Mouse model	Reference
15q11–q13	PWS	6MB paternal deletion (60%) mat UPD (36%) Imprinting defect (3%) Deletion of SNORD116 (rare)	pat-Del(Snrpn-Ube3a) 500 kb Deletion from Snrpn to Ube3a PWS-IC deletions of 4.8 kb/6Kb/35 kb	[21, 22, 150–155]
15q11–q13	AS	6MB maternal deletion (75%) pat UPD (1-2%) Imprinting defect (1–3%) UBE3A point mutation (5-10%)	mat-Del(7Gabrb3-Ube3a)^1yhj 1.68 Mb deletion from Gabrb3 and Ube3a Ube3a^tm1Alb, Ube3a^Stop/+, Ube3a^tm1Yelg, Ube3a^tm2Yelg Ube3a Knockout	[18, 156–159]

Chromosome location

Imprinting disorder

Molecular defects (frequency)

Mouse model

Reference

15q11–q13

PWS

6MB paternal deletion (60%)

mat UPD (36%)

Imprinting defect (3%)

Deletion of SNORD116 (rare)

pat-Del(Snrpn-Ube3a) 500 kb Deletion from Snrpn to Ube3a

PWS-IC deletions of 4.8 kb/6Kb/35 kb

15q11–q13

6MB maternal deletion (75%)

pat UPD (1-2%)

Imprinting defect (1–3%)

UBE3A point mutation

(5-10%)

mat-Del(7Gabrb3-Ube3a)^1yhj 1.68 Mb deletion from Gabrb3 and Ube3a

Ube3a^tm1Alb, Ube3a^Stop/+, Ube3a^tm1Yelg, Ube3a^tm2Yelg

Ube3a Knockout