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A novel frameshift mutation in exon 12 of the adenomatous polyposis coli gene in an Italian family with familial adenomatous polyposis and desmoid tumour.

Vietri MT, Teresa VM, Selvaggi F, Francesco S, De Paola ML, Laura de PM, Sciaudone G, Guido S, Guadagni I, Ilaria G, Parisi M, Mariarita P, Pellino G, Gianluca P, Molinari AM, Maria MA, Cioffi M, Michele C - J Mol Genet Med (2010)

View Article: PubMed Central - PubMed

Affiliation: Department of General Pathology, Second Medical School of Naples, Via L. De Crecchio, 7 80138 Naples, Italy.

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The germline mutations in the APC gene are in charge of the familial adenomatous polyposis (FAP), a rare autosomal inherited disease... Both siblings received ileal J-pouch procedure... The eldest daughter (33 years old) did not display the disease phenotype... This frameshift mutation is located in exon 12 of APC gene and is characterized by a deletion of two nucleotides, generating a premature stop codon between codons 537 and 538 (Figure 2)... The presence of the mutation was confirmed by resequencing a second DNA sample from the patient... The genetic analysis conducted in family members showed the same mutation in the daughter and the son affected with FAP, while the healthy daughter did not have this mutation (Figure 1)... In this study, we identified in the proband, affected with FAP and desmoid tumour the novel mutation 1605_1606delTG... The proband passed on the mutation to one of her daughters and the son resulting in FAP phenotype... Indeed, the previous studies show that in patients affected with FAP and desmoid tumour the mutations of APC gene are localized predominantly in exon 15... These data suggest that the mutations that are not in the 3′ end of the APC gene may be associated with a less severe phenotype... Both siblings affected with FAP and positive for APC gene mutation received colectomy nearly an year ago and at present are undergoing a clinical follow-up program... We propose that a longer follow-up could clarify the association between this novel mutation and the development of desmoid tumour.

No MeSH data available.


Carrier frameshift variant c.1605_1606delTG. Electropherogram for the sense strand of exon 12 of APC gene. DNA sequence reveals a heterozygous TG nucleotide deletion (A), resulting in frameshift and subsequent chain termination. The wide type sequence is shown in (B).
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Figure 2: Carrier frameshift variant c.1605_1606delTG. Electropherogram for the sense strand of exon 12 of APC gene. DNA sequence reveals a heterozygous TG nucleotide deletion (A), resulting in frameshift and subsequent chain termination. The wide type sequence is shown in (B).

Mentions: The analysis of the APC gene in the DNA sample from proband revealed the presence of the novel deletion, 1605_1606delTG. This frameshift mutation is located in exon 12 of APC gene and is characterized by a deletion of two nucleotides, generating a premature stop codon between codons 537 and 538 (Figure 2). The presence of the mutation was confirmed by resequencing a second DNA sample from the patient.


A novel frameshift mutation in exon 12 of the adenomatous polyposis coli gene in an Italian family with familial adenomatous polyposis and desmoid tumour.

Vietri MT, Teresa VM, Selvaggi F, Francesco S, De Paola ML, Laura de PM, Sciaudone G, Guido S, Guadagni I, Ilaria G, Parisi M, Mariarita P, Pellino G, Gianluca P, Molinari AM, Maria MA, Cioffi M, Michele C - J Mol Genet Med (2010)

Carrier frameshift variant c.1605_1606delTG. Electropherogram for the sense strand of exon 12 of APC gene. DNA sequence reveals a heterozygous TG nucleotide deletion (A), resulting in frameshift and subsequent chain termination. The wide type sequence is shown in (B).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2957623&req=5

Figure 2: Carrier frameshift variant c.1605_1606delTG. Electropherogram for the sense strand of exon 12 of APC gene. DNA sequence reveals a heterozygous TG nucleotide deletion (A), resulting in frameshift and subsequent chain termination. The wide type sequence is shown in (B).
Mentions: The analysis of the APC gene in the DNA sample from proband revealed the presence of the novel deletion, 1605_1606delTG. This frameshift mutation is located in exon 12 of APC gene and is characterized by a deletion of two nucleotides, generating a premature stop codon between codons 537 and 538 (Figure 2). The presence of the mutation was confirmed by resequencing a second DNA sample from the patient.

View Article: PubMed Central - PubMed

Affiliation: Department of General Pathology, Second Medical School of Naples, Via L. De Crecchio, 7 80138 Naples, Italy.

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

The germline mutations in the APC gene are in charge of the familial adenomatous polyposis (FAP), a rare autosomal inherited disease... Both siblings received ileal J-pouch procedure... The eldest daughter (33 years old) did not display the disease phenotype... This frameshift mutation is located in exon 12 of APC gene and is characterized by a deletion of two nucleotides, generating a premature stop codon between codons 537 and 538 (Figure 2)... The presence of the mutation was confirmed by resequencing a second DNA sample from the patient... The genetic analysis conducted in family members showed the same mutation in the daughter and the son affected with FAP, while the healthy daughter did not have this mutation (Figure 1)... In this study, we identified in the proband, affected with FAP and desmoid tumour the novel mutation 1605_1606delTG... The proband passed on the mutation to one of her daughters and the son resulting in FAP phenotype... Indeed, the previous studies show that in patients affected with FAP and desmoid tumour the mutations of APC gene are localized predominantly in exon 15... These data suggest that the mutations that are not in the 3′ end of the APC gene may be associated with a less severe phenotype... Both siblings affected with FAP and positive for APC gene mutation received colectomy nearly an year ago and at present are undergoing a clinical follow-up program... We propose that a longer follow-up could clarify the association between this novel mutation and the development of desmoid tumour.

No MeSH data available.