Correction: Development of a High-Throughput Resequencing Array for the Detection of Pathogenic Mutations in Osteogenesis Imperfecta

There are a number of errors in the published article.

Reference sequences for genes with identified variants were inadvertently omitted from the published pdf. The GenBank reference sequence records are:

COL1A1 gene: NG_007400.1, COL1A1 mRNA: NM_000088.3

COL1A2 gene: NG_007405.1, COL1A2 mRNA: NM_000089.3

The variant in patient 2, reported as c.2191G>C in Table 2 should be c.2192G>C, which yields the stated amino acid change p.Gly731Ala. Please see the correct Table 2 here.

Table 2. Mutations identified in OI patients.

Sample	Gene	Exon/Intron	Mutation (cDNA)	Mutation (Protein)	Mutation Type	Zygosity of mutation
1	COL1A1	Intron 1	c.104-1 G>A	NA	Splicing	Heterozygous
2	COL1A1	Exon 32	c.2192 G>C*	p.Gly731Ala	Missense	Heterozygous
3	COL1A1	Exon 38	c.2569 G>T	p.Gly857Cys	Missense	Heterozygous
4	COL1A2	Exon 24	c.1135 G>A	p.Gly379Arg	Missense	Heterozygous
5	COL1A1	Intron 17	c.1155+1 G>A	NA	Splicing	Heterozygous
6	COL1A1	Intron 17	c.1155+1 G>A	NA	Splicing	Heterozygous
7	COL1A2	Intron 19	c.937-3 C>T	NA	Splicing	Heterozygous
8	COL1A2	Exon 23	c.1310_1312dupGAT	p.Asp437dup	Insertion
9	COL1A1	Exon 15	c.967 G>A	p.Gly323Arg	Missense	Heterozygous
10	COL1A2	Exon 38	c.2332 G>A	p.Gly778Ser	Missense	Heterozygous
11	COL1A2	Exon 40	c.2467 G>A	p. Gly823Ser	Missense	Heterozygous
12	COL1A1	Exon 48	c.3433 G>T	p.Gly1145Cys	Missense	Heterozygous
13	COL1A2	Exon 52	c.4048 G>A	p.Gly1350Ser	Missense	Heterozygous

* new mutation found in the present study

The variant in patient 4, c.1135G>A, p.Gly379Arg in COL1A2, reported to be in exon 24 actually lies in exon 21.

The variant in patient 7, c.937-3C>T in COL1A2, reported to be in intron 19 actually lies in intron 18.

Sources for the sequence files in S3 Supplementary data information can be found online in the Ensembl database: http://www.ensembl.org/index.html as well as the Osteogenesis Imperfecta Variant Database: https://oi.gene.le.ac.uk/home.php