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Two novel STK11 mutations in three Chinese families with Peutz-Jeghers syndrome

Ya-gang Zuo1, Ke-jian Xu, Bin Su

  • 1Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China.

Chinese Medical Journal
|July 20, 2007
PubMed

Insights

Peutz-Jeghers syndrome (PJS) is linked to STK11 gene mutations. This study identified two novel STK11 mutations in Chinese PJS families, confirming its role in the disease.

Area of Science:

  • Genetics
  • Molecular Biology
  • Oncology

Background:

  • Peutz-Jeghers syndrome (PJS) is an inherited disorder.
  • Germline mutations in the STK11/LKB1 gene are the known cause of PJS.
  • This study focuses on the Chinese population.

Purpose of the Study:

  • To investigate the molecular basis of Peutz-Jeghers syndrome.
  • To identify STK11 gene mutations in Chinese PJS patients.
  • To evaluate the correlation between STK11 mutations and PJS in this population.

Main Methods:

  • Collected DNA from three PJS pedigrees.
  • Screened all 9 exons and flanking intronic regions of the STK11/LKB1 gene.
  • Utilized polymerase chain reaction (PCR) and direct sequencing.

Main Results:

  • Identified two novel STK11 gene mutations in Chinese PJS probands.
  • A c.180C-->G mutation in exon 1 caused a premature termination codon.
  • A c.998-1002delGCAGC deletion in exon 8 resulted in a frameshift and premature termination.

Conclusions:

  • STK11 gene mutations are confirmed as the molecular basis for PJS.
  • Genetic screening can detect STK11 mutations in the majority of PJS patients.
  • Findings contribute to understanding PJS in the Chinese population.
Abstract

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