Yl. Wallis et al., GENOTYPE-PHENOTYPE CORRELATION BETWEEN POSITION OF CONSTITUTIONAL APCGENE MUTATION AND CHRPE EXPRESSION IN FAMILIAL ADENOMATOUS POLYPOSIS, Human genetics, 94(5), 1994, pp. 543-548
Mutations in the adenomatous polyposis coli (APC) gene are responsible
for the disease familial adenomatous polyposis (FAP), a dominantly in
herited predispostion to colorectal cancer. The most common extracolon
ic manifestation is congenital hypertrophy of the retinal pigment epit
helium (CHRPE), expressed in up to 90% of FAP kindreds. Chain-terminat
ing APC mutations were characterised in 26 unrelated FAP patients. Res
ults show that CHRPE expression is determined by the length of truncat
ed protein product. CHRPE is therefore the first extracolonic manifest
ation of FAP to be shown to be un der the control of the APC mutation
site and should facilitate the detection of constitutional APC mutatio
ns in FAP kindreds.