Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta

Table 2 COL1A2 mutations in unrelated Vietnamese OI patients

	Patient ID	COL1A2 mutation	Exon	Mutation type	Protein alteration	Sillence OI type
1	VN09	c.3305G > GT	Exon 49	Missense	p.Gly1102 > Val	I
2	VN23	c.2261G > GT*	Exon 37	Missense	p.Gly754Val	III
3	VN25	c.1072G > GT	Exon 37	Missense	p.Gly358Ser	I
4	VN29	c.1630G > GA*	Exon 28	Missense	p.Gly544Ser	IV
5	VN45	c.1090G > GA	Exon 21	Missense	p.Gly364Ser	III
6	VN47	c.3034G > GA	Exon 46	Missense	p.Gly1012Ser	IV
6	VN47	c.2569C > CA	Exon 41	Missense	p.Pro857Thr	IV
7	VN48	c.1451G > GA	Exon 25	Missense	p.Gly484Glu	IV
8	VN56	c.1729G > GA*	Exon 30	Missense	p.Gly577Ser	III
9	VN60	c.1009G > GA	Exon 19	Missense	p.Gly337Ser	IV
10	VN62	c.1378G > GA	Exon 24	Missense	p.Gly460Ser	IV
11	VN64	c.1964G > GT*	Exon 32	Missense	p.Gly655Val	IV
12	VN65	c.1981G > GC*	Exon 33	Missense	p.Gly661Ser	III
13	VN69	c.874G > GA	Exon 17	Missense	p.Gly292Ser	III
14	VN81	c.982G > GA	Exon 19	Missense	p.Gly328Ser	III
15	VN82	c.2503G > GA	Exon 40	Missense	p.Gly835Ser	III
16	VN83	c.792 + 1G > GA	Exon 16	Splice site	-	III
17	VN84	c.2791G > GA*	Exon 43	Missense	p.Gly931Arg	IV
18	VN85	c.838G > GT*	Exon 17	Missense	p.Gly280Cys	IV
19	VN87	c.2791G > GA*	Exon 43	Missense	p.Gly931Arg	IV
20	VN96	c.892G > GT*	Exon 18	Missense	p.Gly298Cys	III
21	VN97	c.2538G > GT*	Exon 40	Missense	p.Lys846Asp	I

Mutations unreported in the Dalgliesh’s OI database are marked with an asterisk (*). In the case of heterozygous mutation, both the wild type and mutated alleles are indicated after an arrow (>)

ISSN: 1479-7364