Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome

@article{Nakagawa1998NineNG,
  title={Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome},
  author={Hidewaki Nakagawa and Kumiko Koyama and Yasuo Miyoshi and Hiroshi Ando and Shozo Baba and Masahiro Watatani and Masayuki Yasutomi and Nariaki Matsuura and Morito Monden and Y Nakamura},
  journal={Human Genetics},
  year={1998},
  volume={103},
  pages={168-172}
}
Abstract Peutz-Jeghers Syndrome (PJS) is an autosomal dominant hereditary disease characterized by hamartomatous polyposis involving the entire bowel. Recently STK11, a gene bearing a mutation responsible for PJS, was isolated. We investigated the entire coding region of STK11 in 15 unrelated PJS families by the PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) method and PCR-direct sequence analysis, and found nine different, novel mutations among ten of those… 

Mutations analysis ofSTK11 gene in Chinese families with Peutz-Jeghers syndrome

Mutation frequency is higher in the families suffering PJS in three or more generations than that of the sporadic cases, indicating that the point mutation inSTK11 might be involved in PJS patho-genesis.

Germline mutations of the STK11 gene in Korean Peutz–Jeghers syndrome patients

Findings indicate that germline mis-sense mutations of the STK11 gene are found in PJS patients in addition to truncating mutations, and the effects of these mutations on protein function require further examination.

Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients

P predictive and diagnostic testing for LKB1 mutations will be useful for selected patients in both familial and non-familial contexts, despite the fact that Peutz-Jeghers syndrome is usually an early onset disease with characteristic clinical features.

A De Novo Mutation of STK11 Gene in a Chinese Patient with Peutz–Jeghers Syndrome

The results presented here enlarge the spectrum of mutations of the STK11 gene by identifying a de novo mutation in a PJS patient and further support the hypothesis that STK 11 mutations are disease-causing mutations for PJS.

LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome

These results lessen the possibility of a second PJS locus, as the detection rate of germline mutations in PJS patients was about 80% (59/76), and it is suggested that MLPA, or a suitable alternative, should be used for routine genetic testing of P JS patients in clinical practice.

Complete germline deletion of the STK11 gene in a family with Peutz–Jeghers syndrome

This report, which constitutes the first description of a complete germline deletion of STK11, shows that the presence of such large genomic deletions should be considered in PJS families without detectable point mutations ofSTK11.

High proportion of large genomic STK11 deletions in Peutz‐Jeghers syndrome

Screening for point mutations and large deletions by direct sequencing or MLPA increased the mutation detection rate in the STK11 gene up to 94% and it is questionable whether a second PJS locus exists at all.

Mutations in the human LKB1/STK11 gene

A review of the literature provides a total of 40 different somatic LKB1 mutations in 41 sporadic tumors and seven cancer cell lines, which are concordant with the germline mutation spectrum.

Genetic heterogeneity in Peutz‐Jeghers syndrome

Mutation analysis revealed genetic alterations in LKB1 in two probands who had a family history of PJS, suggesting the presence of significant genetic heterogeneity for PJS and the involvement of other loci in this syndrome.

De novo germline mutation in the serine–threonine kinase STK11/LKB1 gene associated with Peutz–Jeghers syndrome

DNA from microdissected gastrointestinal hamartomatous polyps in the PJS patient was isolated and the loss of heterozygosity (LOH) at the LKB1 locus was investigated by real‐time fluorescence polymerase chain reaction genotyping using a fluorescent resonance energy transfer technique, suggesting a different mechanism from LOH in the formation of hamarto- polyps.
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