NGS mismapping confounds the clinical interpretation of the PRSS1 p.Ala16Val (c.47C>T) variant in chronic pancreatitis

[...]there is a ‘donor’ sequence for these cis-linked variants in another closely linked PRSS1 pseudogene, TRY7 (trypsinogen D; https://www.ncbi.nlm.nih.gov/gene/?term=try7) (figure 1B). [...]allelic ratios of p.Ala16Val in these examples are all <25%, significantly lower than the 50% that would...

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Bibliographic Details
Published inGut Vol. 71; no. 4; pp. 841 - 842
Main Authors Génin, Emmanuelle, Cooper, David N, Masson, Emmanuelle, Férec, Claude, Chen, Jian-Min
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group Ltd and British Society of Gastroenterology 01.04.2022
BMJ Publishing Group LTD
BMJ Publishing Group
Subjects
chronic pancreatitis
genetics
Genomes
High-Throughput Nucleotide Sequencing
Humans
Life Sciences
Meta-analysis
Mutation
Pancreatitis
Pancreatitis, Chronic - diagnosis
Pancreatitis, Chronic - genetics
PostScript
Trypsin - genetics
Trypsinogen
Trypsinogen - genetics
France
chronic pancreatitis
genetics
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Summary:[...]there is a ‘donor’ sequence for these cis-linked variants in another closely linked PRSS1 pseudogene, TRY7 (trypsinogen D; https://www.ncbi.nlm.nih.gov/gene/?term=try7) (figure 1B). [...]allelic ratios of p.Ala16Val in these examples are all <25%, significantly lower than the 50% that would be expected for a genuine heterozygous variant. [...]we performed a meta-analysis of studies that (1) analysed p.Ala16Val in both patients and controls and (2) detected the variant at least once by means of Sanger sequencing or other conventional mutation screening methods using PRSS1-specific primers.
Bibliography:Letter
SourceType-Other Sources-1
content type line 63
ObjectType-Correspondence-1
ObjectType-Commentary-2
ISSN:0017-5749
1468-3288
DOI:10.1136/gutjnl-2021-324943