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

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

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.

Sequence analysis of the WRN coding region detects biallelic pathogenic variants in approximately 97% of affected individuals. The most common pathogenic variant, c.1105C>T, accounts for 20%-25% of pathogenic variants in the European and Japanese populations [Yokote et al 2017]. Founder variants have been identified in other populations (see Table 6).

Deep intronic pathogenic variants that affect splicing [Yokote et al 2017] would not be detected by routine genomic sequence analysis.

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

Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2017]. Pathogenic variants that occur in an intron and create a new exon as well as multiexon deletions and duplications have also been reported [Yokote et al 2017].