Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/β-Catenin Signaling Pathway

Table 1

Identified mutations of NDP and FZD4 in six families with FEVR.

Family	Gene	Type	Mutation	1000G	ExAC	gnomAD	Cosegregation	ACMG
Family 1	NDP	Missense	c.127C>A, p.H43N	Novel	Novel	Novel	De novo	Pathogenic
Family 2	NDP	Nonframeshift	c.129_131del, p.44del	Novel	Novel	Novel	Maternal	Pathogenic
Family 3	NDP	Frameshift	c.320_353del, p.R107Pfs	Novel	Novel	Novel	Maternal	Pathogenic
Family 4	NDP	Frameshift	c.321delG, p.L108Cfs	Novel	Novel	Novel	Maternal	Pathogenic
Family 5	NDP	Missense	c.377G>T, p.C126F	Novel	Novel	Novel	Maternal	Likely pathogenic
Family 6	FZD4	Missense	c.314T>G, p.M105R	Novel	Novel	Novel	Maternal	Pathogenic