RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference

Author:

Etzler J.,Peyrl A.,Zatkova A.,Schildhaus H-U.,Ficek A.,Merkelbach-Bruse S.,Kratz C.P.,Attarbaschi A.,Hainfellner J.A.,Yao S.,Messiaen L.,Slavc I.,Wimmer K.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference50 articles.

1. Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11 c.597(insertion mark)598insIVS4);Abed;Hum Mutat,2001

2. Two PMS2 mutations in a Turcot syndrome family with small bowel cancers;Agostini;Am J Gastroenterol,2005

3. Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques;Andreutti-Zaugg;Cancer Res,1997

4. Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing;Auclair;Hum Mutat,2006

5. Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation;Auclair;Hum Mutat,2007

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