Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein

Mev Dominguez-Valentin; Mark Drost; Christina Therkildsen; Eva Rambech; Hans Ehrencrona; Maria Angleys; Thomas Lau Hansen; Niels de Wind; Mef Nilbert; Lene Juel Rasmussen

doi:10.1002/mgg3.80

Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein

Mev Dominguez-Valentin, Mark Drost, Christina Therkildsen, Eva Rambech, Hans Ehrencrona, Maria Angleys, Thomas Lau Hansen, Niels de Wind, Mef Nilbert, Lene Juel Rasmussen

1 Citationer (Scopus)

Abstract

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>C missense mutation in exon 18 of the human MLH1 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.

Originalsprog	Engelsk
Tidsskrift	Molecular Genetics & Genomic Medicine
Vol/bind	2
Udgave nummer	4
Sider (fra-til)	352-355
Antal sider	4
ISSN	2324-9269
DOI	https://doi.org/10.1002/mgg3.80
Status	Udgivet - jul. 2014

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10.1002/mgg3.80

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title = "Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein",

abstract = "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>C missense mutation in exon 18 of the human MLH1 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.",

author = "Mev Dominguez-Valentin and Mark Drost and Christina Therkildsen and Eva Rambech and Hans Ehrencrona and Maria Angleys and {Lau Hansen}, Thomas and {de Wind}, Niels and Mef Nilbert and {Juel Rasmussen}, Lene",

year = "2014",

month = jul,

doi = "10.1002/mgg3.80",

language = "English",

volume = "2",

pages = "352--355",

journal = "Molecular Genetics & Genomic Medicine",

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TY - JOUR

T1 - Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein

AU - Dominguez-Valentin, Mev

AU - Drost, Mark

AU - Therkildsen, Christina

AU - Rambech, Eva

AU - Ehrencrona, Hans

AU - Angleys, Maria

AU - Lau Hansen, Thomas

AU - de Wind, Niels

AU - Nilbert, Mef

AU - Juel Rasmussen, Lene

PY - 2014/7

Y1 - 2014/7

N2 - 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>C missense mutation in exon 18 of the human MLH1 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.

AB - 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>C missense mutation in exon 18 of the human MLH1 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.

U2 - 10.1002/mgg3.80

DO - 10.1002/mgg3.80

M3 - Journal article

C2 - 25077178

SN - 2324-9269

VL - 2

SP - 352

EP - 355

JO - Molecular Genetics & Genomic Medicine

JF - Molecular Genetics & Genomic Medicine

IS - 4

ER -

Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein

Abstract

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