Table 2.

Spectrum of WNT1 mutations in patients with osteogenesis imperfecta or early-onset osteoporosis

Patient No.	Mutation site	Amino acid change	Effects	ACMGa
1	c.681C > A	p.Cys227*	Nonsense	Likely pathogenic
	c.216dupA	p.Arg73Thrfs	Frameshift	Pathogenic
2	c.385G > A	p.Ala129Thr	Missense	Likely pathogenic
	c.610G > T	p.Glu204*	Nonsense	Likely pathogenic
3	c.506dupG	p.Cys170Leufs	Frameshift	Pathogenic
	c.506dupG	p.Cys170Leufs	Frameshift	Pathogenic
4	c.500dupG	p.Trp167fs	Frameshift	Pathogenic
	c.500dupG	p.Trp167fs	Frameshift	Pathogenic
5	c.501G > A	p.Trp167Cys	Missense	Likely pathogenic
	c.104 + 1G > A	/	Splicing	Pathogenic
6	c.385G > A	p.Ala129Thr	Missense	Likely pathogenic
	c.506G > A	p.Gly169Asp	Missense	Pathogenic
7	c.937C > T	p.Arg313Cys	Missense	Likely pathogenic
	c.506G > A	p.Gly169Asp	Missense	Pathogenic
8	c.104 + 1G > A	/	Splicing	Pathogenic
	c.506G > A	p.Gly169Asp	Missense	Pathogenic
9	c.110T > C	p.Ile37Thr	Missense	Likely pathogenic
	c.505G > T	p.Gly169Cys	Missense	Likely pathogenic
10	c.502G > A	p.Gly168Arg	Missense	VUS
	c.677C > T	p.Ser226Leu	Missense	Pathogenic
11	c.506dupG	p.Cys170Leufs	Frameshift	Pathogenic
	c.506G > A	p.Gly169Asp	Missense	Pathogenic
12	c.255_256insGb	p.Leu86Alafs	Frameshift	Pathogenic
	c.255_256insGb	p.Leu86Alafs	Frameshift	Pathogenic
13	c.677C > T	p.Ser226Leu	Missense	Pathogenic
14	c.382T > G	p.Phe128Val	Missense	Likely pathogenic
15	c.677C > T	p.Ser226Leu	Missense	Pathogenic
16	c.506dupG	p.Cys170Leufs	Frameshift	Pathogenic

Abbreviations: ACMG, American College of Medical Genetics and Genomics; VUS, variant of uncertain significance.

Pathogenicity of the variants was assessed according to the 2015 ACMG and Association for Molecular Pathology (ACMG/AMP) Standards and Guidelines.

A novel mutation identified in our patient.