A novel APC gene germline mutation in a familial adenomatous polyposis pedigree.
- Author:
Jian-nong ZHOU
1
;
Sen-qing CHEN
;
Xiao-mei ZHANG
;
Xin ZHOU
;
Ming ZHU
;
Bo FENG
;
Jin-tian LI
;
Guo-jian MA
;
Yuan-ying ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: Adenomatous Polyposis Coli; genetics; Adenomatous Polyposis Coli Protein; genetics; Adolescent; Adult; Base Sequence; Child; Chromatography, High Pressure Liquid; DNA Mutational Analysis; Female; Germ-Line Mutation; Humans; Male; Middle Aged; Pedigree; Phenotype; Polymerase Chain Reaction
- From: Chinese Journal of Medical Genetics 2006;23(4):388-391
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect the adenomatous polyposis coli (APC) gene germline mutation in the proband and her family members with familial adenomatous polyposis (FAP).
METHODSThe diagnosis of a patient with FAP was validated by colonoscopy, pathology and the family history. The systematic screening with multiplex ligation-dependent probe amplification (MLPA), denaturing high-performance liquid chromatography (DHPLC) and DNA sequencing were carried out to detect APC gene germline mutations.
RESULTSA novel mutation c.1999 C >T (Q667X) of APC, which leads to premature termination of the protein, was identified in this family. This mutation manifested an aggressive form of FAP with early onset of colorectal adenocarcinoma and colonic adenoma.
CONCLUSIONThe mutation of APC Q667X is the cause of clinical phenotype of this family with FAP, and the prophylactic colectomy for the affected family members should be considered.
