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Phenotype/genotype in Gardner disease
Author(s) -
MILAZZO S
Publication year - 2010
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2010.2463.x
Subject(s) - familial adenomatous polyposis , medicine , gardner syndrome , genetic disorder , pathology , malignant transformation , phenotype , disease , genetic counseling , genetic testing , chromosome , gene mutation , mutation , cancer , genetics , colorectal cancer , gene , biology
Purpose Gardner syndrome is a variant of familial adenomatous polyposis and results in the manifestation of external and internal symptoms including gastrointestinal polyps, osteomas, tumors, epidermoid cysts and congenital hypertrophy of retinal pigment epithelium. Methods Three families of Gardner syndrome including 23 patients underwent complete check‐up to characterize ocular and general phenotype. Ophthalmologic manifestations are simple, non invasive reliable and very sensitive. The gene responsible for this disorder was localized on the long arm of the fifth chromosome. APC‐associated polyposis conditions are caused by mutations in the APC gene. A subset of individuals with clinical features of FAP will instead carry a mutation in the MUTYH gene. Results Of the 23 patients, 13 presented a bilateral congenital hypertrophy of retinal pigment epithelium. In these patients 6 had a positive coloscopic exploration. This inherited autosomal dominant disorder has a marked propensity to malignant transformation, so, it is important to detect affected patients early. Conclusion Currently, there are no specific screening recommendations for Gardner syndrome, but testing following general screening recommendations for extra‐colonic malignancies, genetic counseling, and endoscopy are encouraged.