Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome.
World J Gastroenterol
; 15(42): 5364-7, 2009 Nov 14.
Article
em En
| MEDLINE
| ID: mdl-19908348
ABSTRACT
Peutz-Jeghers syndrome (PJS), a rare autosomal dominant inherited disorder, is characterized by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. Patients with this syndrome have a predisposition to a variety of cancers in multiple organs. Mutations in the serine/threonine kinase 11 (STK11) gene have been identified as a major cause of PJS. Here we present the clinical and molecular findings of two unrelated Thai individuals with PJS. Mutation analysis by Polymerase Chain Reaction-sequencing of the entire coding region of STK11 revealed two potentially pathogenic mutations. One harbored a single nucleotide deletion (c.182delG) in exon 1 resulting in a frameshift leading to premature termination at codon 63 (p.Gly61AlafsX63). The other carried an in-frame 9-base-pair (bp) deletion in exon 7, c.907_915del9 (p.Ile303_Gln305del). Both deletions were de novo and have never been previously described. This study has expanded the genotypic spectrum of the STK11 gene.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Peutz-Jeghers
/
Proteínas Serina-Treonina Quinases
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Female
/
Humans
/
Male
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article