Table 1.

Molecular Genetic Testing Used in SOST-related Sclerosing Bone Dysplasia

Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
SOST Sequence analysis 3All reported 4
Gene-targeted deletion/duplication analysis 5See footnotes 6 and 7.
1.
2.

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

3.

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

4.

All pathogenic variants associated with SOST-related sclerosteosis in 94/96 cases are detectable by sequencing [van Lierop et al 2017]. Note that 66/96 reported cases are homozygous for the c.69C>T (p.Gln24Ter) South African founder variant. See footnote 6 regarding the pathogenic variant associated with van Buchem disease.

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.

A homozygous 52-kb deletion downstream of SOST, which does not overlap the coding region, has been described in all Dutch individuals with van Buchem disease [Balemans et al 2002, Staehling-Hampton et al 2002].

7.

No additional data on detection rate of gene-targeted deletion/duplication analysis are available.

From: SOST-Related Sclerosing Bone Dysplasias

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