Table 3:

LIKELY PATHOGENIC GENETIC VARIANTS IDENTIFIED

	Subject #1	Subject #2	Subject #3	Subject #4
Gene	PLS3	LRP5	LRP5	LRP5
OMIM Inheritance	X-linked dominant	AD, AR	AD, AR	AD, AR
Variant ID	X-114863640-GA	11-68205958-GC-G	11-68157455-G-C	11-68197163-G-T
HGVS	ENST00000420625.2:c.367+1G>A	ENST00000294304.7:c.4157delC ENSP00000294304.6:p.Ile1387Serf sTer52	ENST00000294304.7:c.1519G>C ENSP00000294304.6:p.Gly507Arg	ENST00000294304.7:c.3758G>T ENSP00000294304.6:p.Cys1253Phe
Effect	Loss-of-Function: splice-donor variant	Loss-of-Function: Frame-shift	Missense	Missense
Zygosity	Heterozygous	Heterozygous	Heterozygous	Heterozygous
Allele occurrence s in gnomAD	0	0	0	1
ACMG	Likely Pathogenic	Likely Pathogenic	Likely Pathogenic	Likely Pathogenic
Nearby Pathogenic variants			PMID 22456437: c.1519G>A p.G507S (HGMD)	PMID 20340138: Likely pathogenic – rs768615287