Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma

Grotta, Simona; D’Elia, Gemma; Scavelli, Rossana; Genovese, Silvia; Surace, Cecilia; Sirleto, Pietro; Cozza, Raffaele; Romanzo, Antonino; De Ioris, Maria Antonietta; Valente, Paola; Tomaiuolo, Anna Cristina; Lepri, Francesca Romana; Franchin, Tiziana; Ciocca, Laura; Russo, Serena; Locatelli, Franco; Angioni, Adriano

doi:10.1186/s12885-015-1854-0

BMC Cancer

Table 3 List of all mutations identified either by NGS or Sanger sequencing

From: Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma

ID	Laterality	Exon intron	Coordinate	Type	Allele	Q	Coverage	Variant frequency	Mutation	Protein	References
1	TRB	2	48881497	Deletion	het	40	446	0.51	c.220_221delGC	p.Ala74fs35X	New
2	BRB	2	48881523	SNP	het	38	167	0.43	c.245C>A	p.Ser82X	[26]
3	BRB	2	48881542	Deletion	het	/	/	/	c.264delG	Altered splicing	New
4	BRB	3	48916744	Insertion	het	39	1463	0.5	c.274insT	p.Ile92fs109X	New
5	BRB	3	48916831	SNP	het	38	1409	0.38	c.316C>T	p.GLn121X	New
6	BRB	3	48916839	Deletion	het	37	599	0.51	c.369delAT	p.Asn123fs129X	New
7	BRB	8	48937069	Deletion	het	40	450	0.51	c.837_841delGAACA	p.Glu280del_His281X	New
7	BRB	8	48937075	Deletion	het	40	453	0.51	c.843delG	p.Glu280del_His281X	New
8	BRB	8	48937095	SNP	het	38	250	0.48	c.861+2T>C	Altered splicing	[29]
9	BRB	10	48941648	SNP	het	40	1250	0.49	c.958C>T	p.Arge320X	[29]
10	BRB	11	489742685	SNP	het	39	421	0.52	c.1072C>T	p.Arg358X	[30]
11	URB	IVS-12	48947629	SNP	het	39	565	0.52	c.1215+1G>T	Altered splicing	COSMIC-COSMIC29786
12^a	BRB	IVS-13	48953729	SNP	het	/	/	/	c.1333-1G>A	Altered splicing	[31]
13	BRB	15	48954198	SNP	het	37	231	0.47	c.1399C>T	p.Arg467X	[32]
14	BRB	15	48954198	SNP	het	36	343	0.46	c.1399C>T	p.Arg467X	[32]
15	BRB	18	49027139	SNP	het	40	1073	0.49	c.1706T>A	p.Leu569X	New
16	BRB	IVS-19	49033822	SNP	het	38	626	0.45	c.1961-2A>G	Skip exone 19	[33]
17	BRB	IVS-19	49030486	SNP	het	39	227	0.45	c.1960+1G>A	Altered splicing	[34]
18	BRB	20	49033935	Deletion	het	39	305	0.47	c.2073delG	p.Glu691fs695X	New
19	BRB	IVS-21	49037976	SNP	het	40	593	0.54	c.2211+5G>A	Altered splicing	[35]
20	BRB	22	49039209	SNP	het	40	452	0.45	c.2287A>T	p.Arg763X	New
21	BRB	23	49039374	SNP	het	40	234	0.51	c.2359C>T	p.Arg787X	[29]
22	URB	23	49039374	SNP	het	39	248	0.51	c.2359C>T	p.Arg787X	[29]
23	BRB	23	49039444	Insertion	het	39	860	0.49	c.2429insGTTC	p.Lys810fs815X	New
24	URB	25	49050852	SNP	het	40	960	0.44	c.2536C>T	p.Gln846X	[26]
25^b	BRB	7	48934197	Deletion	het	/	/	/	c.652delT	p.Leu218X	New

^aPatients with mutation detected by Sanger as integration of uncovered regions from Panel A
^bPatient negative to array-CGH, re-analysed by Sanger sequencing on the same exon previously identified positive by MLPA

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ISSN: 1471-2407

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