Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.
AUTOR(ES)
Bunyan, D J
RESUMO
Nine new causative mutations and seven previously characterised mutations of the APC gene of patients with familial adenomatous polyposis (FAP) were analysed for any genotype-phenotype correlations. The only clear genotype-phenotype correlation found was between the position of the mutation site and the presence or absence of congenital hypertrophy of the retinal pigment epithelium (CHRPE). A more distal mutation site was associated with an earlier age of onset of symptoms and a larger number of colonic polyps, but a notable amount of intrafamilial variation was observed.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1051675Documentos Relacionados
- APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis.
- APC genotype, polyp number, and surgical options in familial adenomatous polyposis.
- APC mutation associated with late onset of familial adenomatous polyposis.
- Functional Analysis of RUNX2 Mutations in Japanese Patients with Cleidocranial Dysplasia Demonstrates Novel Genotype-Phenotype Correlations
- Familial adenomatous polyposis.