✦ LIBER ✦

A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9

✍ Scribed by Joanne Young; Lisa A. Simms; Jabbar Tarish; Ron Buttenshaw; Ngaire Knight; Gregory J. Anderson; Andrew Bell; Barbara Leggett

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 196 KB
Volume: 11
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1998)11:6<450::aid-humu5>3.0.co;2-p

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✦ Synopsis

A family is presented with attenuated familial adenomatous polyposis of variable phenotype. The clinical features range from sparse right-sided polyposis and cancer in the proximal colon at the age of 34 to pan-colonic polyposis and cancer at the age of 68. Rectal sparing is common to all affected members. Heteroduplex analysis detected bands of altered mobility in exon 9 of the APC gene in all affected family members. Subsequently, a frameshift mutation was found in the alternatively spliced region of exon 9 at codon 398 which resulted in a stop signal 4 codons downstream. Alternatively spliced transcripts that delete the mutation were readily amplified from normal colonic mucosa and therefore create a mechanism for the attenuated phenotype seen in this family.

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