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[MYH associated polyposis: severe phenotype in the homozygosity for the 1103delC mutation].

Acta medica portuguesa - 1 Jan 2000

De Ferro Susana Mão, Lage Pedro, Suspiro Alexandra, Fidalgo Paulo, Fragoso Sofia, Baltazar Célia, Vitoriano Inês, Rodrigues Paula, Albuquerque Cristina, Leitão C Nobre

Abstract excerpt

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...

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PMID: 17868535

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