Table 1.

Molecular Genetic Testing Used in PRSS1-Related Hereditary Pancreatitis

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
PRSS1 Sequence analysis 3≥94% 4
Gene-targeted deletion/duplication analysis 5≤6% 6
1.

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

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.

One of two pathogenic variants (p.Asn29Ile or p.Arg122His) is identified in 90% of affected individuals [Rebours et al 2009].

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.

Masson et al [2008a]. Among copy number variants identified: duplication and triplication of a 605-kb segment containing PRSS1 and PRSS2 [Le Maréchal et al 2006, Masson et al 2008b].

From: PRSS1-Related Hereditary Pancreatitis

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