Table 2.

17 unrelated Brazilian probands diagnosed with LCA or early-onset retinal dystrophy and solved by pathogenic mutations in canonical LCA/ early-onset severe retinal dystrophies (EOSRD) disease genes.

Family	Patient ID	Gene	HGMD RefSeq ID	Genotype	gDNA Change	cDNA Change	Protein Change	HGMD Pubmed ID
1	FBP_ABC	RPE65	NM_000329.2	Homozygous	chr1:68910339 G>A	c.370C>T	p.Arg124*	20683928; 24066033
2	FBP_EFG	RPE65	NM_000329.2	Heterozygous	chr1:68903976 A>G	c.1022T>C	p.Leu341Ser	15837919
			NM_000329.2	Heterozygous	chr1:68910540 C>T	c.272G>A	p.Arg91Gln	11095629; 19431183
4	FBP_2	RPE65	NM_000329.2	Homozygous	chr1:68906619 C>T	c.560G>A	p.Gly187Glu	Novel
6	FBP_4	GUCY2D	NM_000180.3	Homozygous	chr17:7909997 C>A	c.1343C>A	p.Ser448*	10951519
7	FBP_8	RDH12	NM_152443.2	Heterozygous	chr14:68191305 C>T	c.184C>T	p.Arg62*	15258582
			NM_152443.2	Heterozygous	chr14:68195947 T>A	c.698T>A	p.Val233Asp	20683928
9	FBP_29	CEP290	NM_025114.3	Heterozygous	chr12:88494960 T>C	c.2991+1655A>G	p.Cys998*	16909394; 19823873; 23591405
			NM_025114.3	Heterozygous	chr12:88456563 A>C	c.6271−8T>G	p.?	17409309
10	FBP_30	IQCB1	NM_001023570.2	Homozygous	chr3:121527857 C>T	c.394−1G>A	p.?	Novel
12	FBP_34	CRB1	NM_201253.2	Heterozygous	chr1:197446848 G>A	c.4060G>A	p.Ala1354Thr	11389483; 15459956
			NM_201253.2	Heterozygous	chr1:197390718 G>A	c.1760G>A	p.Cys587Tyr	15459956
		PROM1	NM_006017.2	Homozygous	chr4:16024948 C>A	c.784+1G>T	p.?	Novel
14	FBP_36	CRB1	NM_201253.2	Heterozygous	chr1:197403836 G>A	c.2843G>A	p.Cys948Tyr	10508521; 20956273; 23379534
			NM_201253.2	Heterozygous	chr1:197390591 T>C	c.1633T>C	p.Ser545Pro	Novel
15	FBP_48	PRPH2	NM_000322.4	Homozygous	chr6:42689937 G>A	c.136C>T	p.Arg46*	8111389; 20213611; 23105016
16	FBP_49	SPATA7	NM_018418.4	Heterozygous	chr14:88892899 C>CT	c.697dupT	p.Leu232fs	Novel
			NM_018418.4	Heterozygous	chr14:88892905 TAACA>T	c.703_706del	p.235_236del	Novel
19	FBP_55	LRAT	NM_004744.3	Homozygous	chr4:155665824 T>C	c.346T>C	p.Phe116Leu	Novel
20	FBP_57	NMNAT1	NM_022787.3	Heterozygous	chr1:10035827 T>G	c.293T>G	p.Val98Gly	22842231; 22842227; 22842230
			NM_022787.3	Heterozygous	chr1:10032168 G>A	c.37G>A	p.Ala13Thr	22842229; 22842227; 22842230
24	FBP_62	CEP290	NM_025114.3	Homozygous	chr12:88494960 T>C	c.2991+1655A>G	p.Cys998*	16909394; 19823873; 23591405
28	FBP_67	IQCB1	NM_001023570.2	Homozygous	chr3:121491467 G>A	c.1504C>T	p.Arg502*	20881296; 23446637
35	FBP_173	CEP290	NM_025114.3	Heterozygous	chr12:88494960 T>C	c.2991+1655A>G	p.Cys998*	16909394; 19823873; 23591405
			NM_025114.3	Heterozygous	chr12:88514886 A>C	c.1247T>G	p.Leu416*	Novel
36	FBP_174	CRB1	NM_201253.2	Homozygous	chr1:197403836 G>A	c.2843G>A	p.Cys948Tyr	10508521; 20956273; 23379534

HGMD: Human Gene Mutation Database; gDNA: genomic DNA; cDNA: complementary DNA.