An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation.
Mutations reported to cause Muir-Torre syndrome (MTS) have previously been reported in the mismatch repair genes MLH1 and MSH2 and more recently, in MYH [1]. We report siblings, one of whom has a clinical diagnosis of MTS, who have a pathogenic MSH6 gene mutation. This finding demonstrates that MSH6 gene analysis should be considered in MTS families where no MSH2 or MLH1 gene mutations have been found.
Arnold
Angela
A
Opaldia Limited, 27 Fitzroy Square, London W1T 6ES, UK. angela.arnold@opaldia.com
Payne
Stewart
S
Fisher
Samantha
S
Fricker
Diane
D
Soloway
Judith
J
White
Susan M
SM
Novelli
Marco
M
MacDonald
Kylie
K
Mackay
James
J
Groves
Richard
R
Canham
Natalie
N
D000230:Adenocarcinoma / Q000235:genetics* / Q000473:pathology; D000236:Adenoma / Q000235:genetics* / Q000473:pathology; D004268:DNA-Binding Proteins / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009154:Mutation; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D012004:Rectal Neoplasms / Q000235:genetics* / Q000473:pathology; D012626:Sebaceous Gland Neoplasms / Q000235:genetics* / Q000473:pathology; D035781:Siblings; D013577:Syndrome; D044465:White People
D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein