Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein. Issue 4 (6th May 2014)

• Record Type: Journal Article
• Authors: Dominguez‐Valentin, Mev; Drost, Mark; Therkildsen, Christina; Rambech, Eva; Ehrencrona, Hans; Angleys, Maria; Lau Hansen, Thomas; de Wind, Niels; Nilbert, Mef; Juel Rasmussen, Lene
• Is Part Of: Molecular genetics & genomic medicine. Volume 2:Issue 4(2014:Jul.)
• Page Start: 352
• Page End: 355
• Publication Date: 2014-05-06
• Subjects: Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.80
• Languages: English
• ISSNs: 2324-9269

Abstract

<abstract abstract-type="main" id="mgg380-abs-0001"> <title>Abstract</title> <p>In clinical genetic diagnostics, it is difficult to predict whether genetic mutations that do not greatly alter the primary sequence of the encoded protein causing unknown functional effects on cognate proteins lead to development of disease. Here, we report the clinical identification of c.2038 T&gt;C missense mutation in exon 18 of the human <italic>MLH1</italic> gene and biochemically characterization of the p.Cys680Arg mutant MLH1 protein to implicate it in the pathogenicity of the Lynch syndrome (LS). We show that the mutation is deficient in DNA mismatch repair and, therefore, contributing to LS in the carriers.</p> </abstract>