title: Novel insertion mutation p.Asp610GlyfsX23 in APC gene causes familial adenomatous polyposis in Chinese families.
abstract: OBJECTIVE
  The aim of the study was to identify the causative gene defects associated with familial adenomatous polyposis (FAP) in two Chinese pedigrees.
  
  
  METHODS
  The diagnosis of FAP patients was confirmed by clinical manifestations, family histories, colonoscopy and pathology examinations. Blood samples were collected and genomic DNA was extracted. The mutation analysis of the adenomatous polyposis coli (APC) and human mutY homolog (MUTYH) genes was conducted by direct polymerase chain reaction (PCR) sequencing and multiplex ligation-dependent probe amplification (MLPA).
  
  
  RESULTS
  In pedigree A, the results of direct PCR sequencing revealed a heterozygous insertion mutation at codon 610 in exon 15 of APC gene (c.1828_1829insG), which resulted in frameshift change (p.Asp610GlyfsX23) in all 4 patients, but was absent in the unaffected familial members and controls. In pedigree B, we didn't identify that causative mutations cosegregated with the clinical phenotype in the APC and MUTYH genes.
  
  
  CONCLUSIONS
  We identified a novel insertion mutation as the pathogenic gene of FAP in Chinese population, which could enrich the germline mutation spectrum of APC gene, and the prophylactic proctocolectomy for the mutation carrier in family should be considered.
authors.affiliation: Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan 430071, China.
authors.forename: Guibo
authors.initials: G
authors.lastname: Song
authors.forename: Yufeng
authors.initials: Y
authors.lastname: Yuan
authors.forename: Fang
authors.initials: F
authors.lastname: Zheng
authors.forename: Na
authors.initials: N
authors.lastname: Yang
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000208:ethnology / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics* / Q000706:statistics & numerical data; D001224:Aspartic Acid / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D045647:DNA Glycosylases / Q000235:genetics; D005190:Family / Q000208:ethnology; D005260:Female; D017491:Genes, APC; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D018095:Germ-Line Mutation / Q000502:physiology; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional / Q000502:physiology*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D055815:Young Adult
chemical_list: D001224:Aspartic Acid; D045647:DNA Glycosylases; C061738:mutY adenine glycosylase; D005998:Glycine