Table 2.

Molecular Genetic Testing Used in Cerebrotendinous Xanthomatosis

Gene 1MethodProportion of Pathogenic Variants 2 Identified by Method
CYP27A1 Sequence analysis 399% 4
Gene-targeted deletion/duplication analysis 51% 4
1.

See Table A. Genes and Databases for chromosome locus and protein.

2.

See Molecular Genetics for information on 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 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.

4.

Data derived from the subscription-based professional view of Human Gene Mutation Database and Ensembl 105: Dec 2021 [Stenson et al 2020, Howe et al 2021]

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.

From: Cerebrotendinous Xanthomatosis

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