Abstract
The analysis of APC and MYH mutations in adenomatous polyposis coli patients should provide clues about the genetic heterogeneity of the syndrome in human populations. The entire coding region and intron-exon borders of the APC and MYH genes were analyzed in 60 unrelated Italian adenomatous polyposis coli patients. APC analysis revealed 26 point mutations leading to premature termination, one missense variant and one deletion spanning the entire coding region in 32 unrelated patients. Novel truncating point mutations included c.1176_1177insT (p.His393_PhefsX396), c.1354_1355del (p.Val452_SerfsX458), c.2684C>A (p.Ser895X), c.2711_2712del (p.Arg904_LysfsX910), c.2758_2759del (p.Asp920_CysfsX922), c.4192_4193del (p.Ser1398_SerfsX1407), c.4717G>T (p.Glu1573X) and a novel cryptic APC exon 6 splice site. MYH analysis revealed nine different germline variants in nine patients, of whom five were homozygotes or compound heterozygotes. The mutations included 4 novel MYH missense variants (c.692G>A, p.Arg231His; c.778C>T, p.Arg260Trp; c.1121T>C, p.Leu374Pro; and c.1234C>T, p.Arg412Cys) affecting conserved amino acid residues in the ENDO3c or NUDIX domains of the protein and one novel synonymous change (c.672C>T, p.Asn224Asn). Genotype-phenotype correlations were found in carriers of APC mutations but not in carriers of biallelic MYH mutations, except for a negative correlation with low number of polyps. A distinctive characteristic of patients negative for APC and MYH mutations was a significantly (p
| Original language | English |
|---|---|
| Pages (from-to) | 394 |
| Number of pages | 1 |
| Journal | Human Mutation |
| Volume | 26 |
| Issue number | 4 |
| Publication status | Published - Oct 2005 |
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ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
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Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. / Aceto, Gitana; Cristina Curia, Maria; Veschi, Serena; De Lellis, Laura; Mammarella, Sandra; Catalano, Teresa; Stuppia, Liborio; Palka, Giandomenico; Valanzano, Rosa; Tonelli, Francesco; Casale, Vincenzo; Stigliano, Vittoria; Cetta, Francesco; Battista, Pasquale; Mariani-Costantini, Renato; Cama, Alessandro.
In: Human Mutation, Vol. 26, No. 4, 10.2005, p. 394.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.
AU - Aceto, Gitana
AU - Cristina Curia, Maria
AU - Veschi, Serena
AU - De Lellis, Laura
AU - Mammarella, Sandra
AU - Catalano, Teresa
AU - Stuppia, Liborio
AU - Palka, Giandomenico
AU - Valanzano, Rosa
AU - Tonelli, Francesco
AU - Casale, Vincenzo
AU - Stigliano, Vittoria
AU - Cetta, Francesco
AU - Battista, Pasquale
AU - Mariani-Costantini, Renato
AU - Cama, Alessandro
PY - 2005/10
Y1 - 2005/10
N2 - The analysis of APC and MYH mutations in adenomatous polyposis coli patients should provide clues about the genetic heterogeneity of the syndrome in human populations. The entire coding region and intron-exon borders of the APC and MYH genes were analyzed in 60 unrelated Italian adenomatous polyposis coli patients. APC analysis revealed 26 point mutations leading to premature termination, one missense variant and one deletion spanning the entire coding region in 32 unrelated patients. Novel truncating point mutations included c.1176_1177insT (p.His393_PhefsX396), c.1354_1355del (p.Val452_SerfsX458), c.2684C>A (p.Ser895X), c.2711_2712del (p.Arg904_LysfsX910), c.2758_2759del (p.Asp920_CysfsX922), c.4192_4193del (p.Ser1398_SerfsX1407), c.4717G>T (p.Glu1573X) and a novel cryptic APC exon 6 splice site. MYH analysis revealed nine different germline variants in nine patients, of whom five were homozygotes or compound heterozygotes. The mutations included 4 novel MYH missense variants (c.692G>A, p.Arg231His; c.778C>T, p.Arg260Trp; c.1121T>C, p.Leu374Pro; and c.1234C>T, p.Arg412Cys) affecting conserved amino acid residues in the ENDO3c or NUDIX domains of the protein and one novel synonymous change (c.672C>T, p.Asn224Asn). Genotype-phenotype correlations were found in carriers of APC mutations but not in carriers of biallelic MYH mutations, except for a negative correlation with low number of polyps. A distinctive characteristic of patients negative for APC and MYH mutations was a significantly (p
AB - The analysis of APC and MYH mutations in adenomatous polyposis coli patients should provide clues about the genetic heterogeneity of the syndrome in human populations. The entire coding region and intron-exon borders of the APC and MYH genes were analyzed in 60 unrelated Italian adenomatous polyposis coli patients. APC analysis revealed 26 point mutations leading to premature termination, one missense variant and one deletion spanning the entire coding region in 32 unrelated patients. Novel truncating point mutations included c.1176_1177insT (p.His393_PhefsX396), c.1354_1355del (p.Val452_SerfsX458), c.2684C>A (p.Ser895X), c.2711_2712del (p.Arg904_LysfsX910), c.2758_2759del (p.Asp920_CysfsX922), c.4192_4193del (p.Ser1398_SerfsX1407), c.4717G>T (p.Glu1573X) and a novel cryptic APC exon 6 splice site. MYH analysis revealed nine different germline variants in nine patients, of whom five were homozygotes or compound heterozygotes. The mutations included 4 novel MYH missense variants (c.692G>A, p.Arg231His; c.778C>T, p.Arg260Trp; c.1121T>C, p.Leu374Pro; and c.1234C>T, p.Arg412Cys) affecting conserved amino acid residues in the ENDO3c or NUDIX domains of the protein and one novel synonymous change (c.672C>T, p.Asn224Asn). Genotype-phenotype correlations were found in carriers of APC mutations but not in carriers of biallelic MYH mutations, except for a negative correlation with low number of polyps. A distinctive characteristic of patients negative for APC and MYH mutations was a significantly (p
UR - http://www.scopus.com/inward/record.url?scp=33645454806&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33645454806&partnerID=8YFLogxK
M3 - Article
C2 - 16134147
AN - SCOPUS:33645454806
VL - 26
SP - 394
JO - Human Mutation
JF - Human Mutation
SN - 1059-7794
IS - 4
ER -