Familial adenomatous polyposis: a submicroscopic deletion at the APC locus in a family with mentally normal patients

Cytogenetically visible deletions that include the adenomatosis polyposis coli (APC) locus have repeatedly been reported in mentally handicapped polyposis patients. We report on a family with a submicroscopic deletion of about 200 kb including more than the 3' half of the APC gene and the adjac...

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Bibliographic Details
Published inHuman genetics Vol. 97; no. 2; p. 204
Main Authors Mandl, M, Caspari, R, Jauch, A, Böker, T, Raschke, H, Sengteller, M, Propping, P, Friedl, W
Format Journal Article
LanguageEnglish
Published Germany 01.02.1996
Subjects
Adenomatous Polyposis Coli - genetics
Adult
Cell Line
Chromosome Mapping
Female
Genes, APC - genetics
Genetic Linkage
Haplotypes
Humans
Lymphocytes
Male
Middle Aged
Pedigree
Sequence Deletion - genetics
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Summary:Cytogenetically visible deletions that include the adenomatosis polyposis coli (APC) locus have repeatedly been reported in mentally handicapped polyposis patients. We report on a family with a submicroscopic deletion of about 200 kb including more than the 3' half of the APC gene and the adjacent DP1 gene. The deletion was detected by linkage analysis with flanking and intragenic markers and proven by in situ hybridisation with intragenic cosmid clones. All the familial adenomatous polyposis (FAP) patients and persons at risk in the family show normal behaviour and intelligence. Thus, it is conceivable that at least some of the FAP patients in whom mutations could not be identified by routine methods may have large but submicroscopic deletions.
ISSN:0340-6717
DOI:10.1007/BF02265266