. 2014 Feb 7;9(2):e88410. doi: 10.1371/journal.pone.0088410

Table 1. Summary of the diagnosed families in this study.

A) USH II families
Family	Phenotype	Inheritance	Gene	Nucleotide change	Protein change	Zygosity	References
40ORG	Usher II	recessive	USH2A	c.1751G>T	p.C584F	Het	[a]
				c.2299delG^b	p.E767Sfs*20	Het	[50]
54RE	Usher II	recessive	USH2A	c.10636G>A	p.G3546R	Hom	[34]
5ORG	Usher II	recessive	USH2A	c.9799T>C^b	p.C3267R	Het	[33]
				c.12574C>T	p.R4192C	Het	[a]
56RE	Usher II	recessive	USH2A	c.2299delG^b	p.E767Sfs*20	Het	[50]
				n.i	n.i
94RE	Usher II	recessive	USH2A	c.2299delG^b	p.E767Sfs*20	Het	[50]
				n.i	n.i
B) Families analized by the RD-xip with identified mutations (sorted by gene).
12ORG	RP	recessive	CRB1	c.1702C>T	p.H568Y	Hom	[a]
10RE	LCA	recessive	CRB1	c.3749+2_3749+3del	splicing	Homo/Het	[a]
				c.2843G>A	p.C948Y	Het	[30]
23NCE	RP	recessive	CRB1	c.2290C>T	p.R764C	Hom	[30]
25NCE	RP	recessive	CRB1	c.2843G>A	p.C948Y	Hom	[30]
T5	RP	recessive	CRB1	c.2843G>A	p.C948Y	Hom	[30]
17NCE	RP	recessive	MERTK	c.2189+1G>T	splicing	Hom	[31]
22NCE	RP	recessive	PROM1	c.1984-1G>T	splicing	Hom	[a]
83RE	RP	recessive	RD3	c.259A>G	p.K87E	Hom	[a]
11NCE	RP	X-linked	RP2	c.409_411del	p.I137del	Hemi	[29]
20NCE	RP	X-linked	RP2	All gene deletion		Hemi	[a]
59RE	LCA	recessive	RPGRIP1	c.895_896del	p.E299Sfs*21	Het	[a]
				c.2367+23del^c	intronic	Het	[a]
6ORG	RP	dominant	SNRNP200	c.2042G>T	p.R681L	Het	[a]
18NCE	RP	recessive	USH2A	c.2276G>T	p.C759F	Het	[32]
				c.9799T>C	p.C3267R	Het	[33]
21NCE	RP	recessive	USH2A	c.1434G>C	p.E478D	Het	[51]
				c.2276G>T	p.C759F	Het	[32]
75RE	RP	recessive	USH2A	c.2209C>T	p.R737X	Het	[52]
				c.8693A>C	p.Y2898S	Het	[a]
5NCE	RP	recessive	USH2A	c.652-2A>G	splicing	Het	[a]
				c.2276G>T	p.C759F	Het	[32]
93RE	CRD	recessive	ABCA4	c.3988G>T	p.E1330X	Het	[a]
				c.6410G>A	p.C2137Y	Het	[a]
C) Families with identified mutations by WES
9RE	CD	dominant	GUCY2D	c.2747T>C	p.I916T	Het	[a]
E5	RP	recessive	USH2A	c.2167+5G>A	splicing	Het	[53]
				c.4325T>C	p.F1442S	Het	[35]
				c.7364G>A	p.W2455X	Het	[a]

For each family, the phenotype, inheritance model, the altered gene, the identified mutation, the homozygosity/heterozygosity state, and the reference of previously described mutations are indicated. [a] This study, ^bMutations previously identified by APEX ^cUnknown pathogenicity, ^n.i Not identified.