Table 2

Summary of the main genetic findings per patient

Individual7q11.23 deletionHemizygous alleleGenome-wideGenome-wide rare LoF SNVs
Origin GTF2IRD2 Size (Mb)SNVsCNVsASD candidate genesLoF intolerant genes
WBS1Pat1M/3T1.55
WBS2Pat2M/2T1.55T at rs12539160
WBS3Pat1M/3T1.55 SIK1 partial dupPI
WBS4Pat1M/2T1.83 CC2D1A
c.1357-2A>CPI
WBS5Pat2M/2T1.55 PYHIN1 p.(Arg373*)MI SEC24C c.2682+2A>GMI
UBR5
p.(Arg633*)DN
WBS6Pat1Ch/1M/2T1.55T at rs12539160 AGAP1
c.1051-2A>TPI
WBS7Mat2M/2T1.55 DUSP22 delNM USP45 p.(Glu220*)MI CXXC1 p.(Ser222Leufs*7)NM
WBS8Pat1M/2T1.83 PIK3CG p.(Glu14Glyfs*147)PI MED26 c.147+2T>CPI
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.