Table 3.

Molecular Genetic Testing Used in COL1A1/2 Osteogenesis Imperfecta

Gene 1, 2Proportion of OI
Attributed to Pathogenic
Variants in Gene		Proportion of Pathogenic Variants 3 Detectable by Method
Sequence analysis 4Gene-targeted deletion/duplication analysis 5
COL1A1 ~5%-70% 6>95% 71%-2% 8
COL1A2 ~5%-30 6>95% 71%-2% 8
1.

Genes are listed in alphabetic order.

2.
3.

See Molecular Genetics for information on variants detected in this gene.

4.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include missense, nonsense, and splice site variants and small intragenic deletions/insertions; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

6.

PH Byers, personal communication

7.

Sequence analysis of COL1A1 and COL1A2 cDNA to detect pathogenic variants in the coding sequence and sequence analysis of COL1A1 and COL1A2 genomic DNA to detect pathogenic variants that alter either sequence or stability of mRNA identify close to 100% of pathogenic variants in these two genes.

8.

van Dijk et al [2010] and data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

From: COL1A1/2 Osteogenesis Imperfecta

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