[MYH associated polyposis: severe phenotype in the homozygosity for the 1103delC mutation].
MYH-associated polyposis (MAP) is an autosomal recessive disease associated with multiple colonic adenomas and colorectal cancer. Y165C and G382D MYH missense mutations are involved in more than 80% of cases in Caucasians and the large series published do not include patients homozygous for other mutations. We present the report of two siblings homozygous for the nonsense frameshift mutation 1103delC. The proband aged 28 presented with four colonic adenocarcinomas and 20-30 synchronous adenomas. Her sister aged 24 had 20 colonic adenomas and a severe Spigelman's III duodenal adenomatosis. Their parents, aged 60 and 51, heterozygous for the 1103delC MYH mutation, presented 5 and 2 low risk colorectal adenomas, respectively.
De Ferro
Susana Mão
SM
Serviço de Gastrenterologia, Centro de Investigação em Patologia Molecular, Instituto Português de Oncologia de Lisboa de Francisco Gentil, Lisboa.
Lage
Pedro
P
Suspiro
Alexandra
A
Fidalgo
Paulo
P
Fragoso
Sofia
S
Baltazar
Célia
C
Vitoriano
Inês
I
Rodrigues
Paula
P
Albuquerque
Cristina
C
Leitão
C Nobre
CN
D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000328:Adult; D045647:DNA Glycosylases / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012720:Severity of Illness Index
D045647:DNA Glycosylases; C061738:mutY adenine glycosylase