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Avoidance of pseudogene interference in the detection of 3′ deletions in PMS2

26 May 2011

Abstract excerpt

Lynch syndrome is characterized by mutations in the mismatch repair genes MLH1, MSH2, MSH6, and PMS2. In PMS2, detection of mutations is confounded by numerous pseudogenes. Detection of 3' deletions is particularly complicated by the pseudogene PMS2CL, which has strong similarity to PMS2 exons 9 and 11-15, due to extensive gene conversion. A newly designed multiplex ligation-dependent probe amplification (MLPA)...

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PMID: 21618646
DOI: 10.1002/humu.21540

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Avoidance of pseudogene interference in the detection of 3′ deletions in PMS2PMID 21618646Read ↗

Clinical analysis of<i>PMS2</i>: mutation detection and avoidance of pseudogenesSemantic proximity Read ↗

The frequency of previously undetectable deletions involving 3′ Exons of the <i>PMS2</i> geneSemantic proximity Read ↗

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Detecting clinically actionable variants in the 3′ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogeneSemantic proximity Read ↗

Detecting clinically actionable variants in the 3’ exons of <i>PMS2</i> via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogeneSemantic proximity Read ↗

Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.Semantic proximity Read ↗

Misclassification of a frequent loss of function variant from<i>PMS2CL</i>pseudogene as a<i>PMS2</i>variant in Brazilian patientsSemantic proximity Read ↗

Reclassification of a frequent African-origin variant from PMS2 to the pseudogene PMS2CL.Semantic proximity Read ↗

Extensive gene conversion at the PMS2 DNA mismatch repair locus.Semantic proximity Read ↗

Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.Semantic proximity Read ↗

Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.Semantic proximity Read ↗

Long-range PCR facilitates the identification of PMS2-specific mutations.Semantic proximity Read ↗

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