. 2019 Aug 14;56(12):801–808. doi: 10.1136/jmedgenet-2019-106080

Table 2.

Summary of the main genetic findings per patient

Individual	7q11.23 deletion			Hemizygous allele	Genome-wide	Genome-wide rare LoF SNVs
Individual	Origin	GTF2IRD2	Size (Mb)	SNVs	CNVs	ASD candidate genes	LoF intolerant genes
WBS1	Pat	1M/3T	1.55
WBS2	Pat	2M/2T	1.55	T at rs12539160
WBS3	Pat	1M/3T	1.55		SIK1 partial dup^PI
WBS4	Pat	1M/2T	1.83			CC2D1A c.1357-2A>C^PI
WBS5	Pat	2M/2T	1.55			PYHIN1 p.(Arg373*)^MI	SEC24C c.2682+2A>G^MI
WBS5	Pat	2M/2T	1.55			UBR5 p.(Arg633*)^DN	SEC24C c.2682+2A>G^MI
WBS6	Pat	1Ch/1M/2T	1.55	T at rs12539160		AGAP1 c.1051-2A>T^PI
WBS7	Mat	2M/2T	1.55		DUSP22 del^NM	USP45 p.(Glu220*)^MI	CXXC1 p.(Ser222Leufs*7)^NM
WBS8	Pat	1M/2T	1.83			PIK3CG p.(Glu14Glyfs*147)^PI	MED26 c.147+2T>C^PI
WBS8	Pat	1M/2T	1.83			PIK3CG p.(Glu14Glyfs*147)^PI	EPHB1 p.(Ser435ProfsTer13)^MI

*Stop codon.

Ch, chimeric-type copies; DN, de novo; del, deletion; dup, duplication; LoF, loss of function; M, medial-type copies; MI, maternally inherited; Mat, de novo, maternal chromosome; NM, not maternal (father not available); PI, paternally inherited; Pat, de novo, paternal chromosome; T, telomeric-type copies; WBS, Williams-Beuren syndrome.