Related Experiment Video

Updated: Jun 18, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome

Surasawadee Ausavarat1, Petcharat Leoyklang, Paisarn Vejchapipat

  • 1Interdepartment of Biomedical Sciences, Faculty of Graduate School, Chulalongkorn University, and Department of Peidatrics, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.

World Journal of Gastroenterology
|November 13, 2009
PubMed

Insights

Peutz-Jeghers syndrome (PJS) is a rare inherited disorder linked to STK11 gene mutations. This study identified two novel STK11 gene deletions in Thai patients, expanding the known genetic variations for PJS.

Area of Science:

  • Genetics
  • Oncology
  • Gastroenterology

Background:

  • Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder.
  • PJS is characterized by hamartomatous polyps and mucocutaneous pigmentation.
  • Individuals with PJS have an increased risk of various cancers.

Purpose of the Study:

  • To present the clinical and molecular findings of two unrelated Thai individuals diagnosed with PJS.
  • To identify and characterize mutations in the serine/threonine kinase 11 (STK11) gene in these patients.

Main Methods:

  • Mutation analysis using Polymerase Chain Reaction-sequencing of the entire STK11 coding region.
  • Detailed characterization of identified genetic variations.

Main Results:

  • Two potentially pathogenic STK11 mutations were identified: a single nucleotide deletion (c.182delG) in exon 1 causing a frameshift (p.Gly61AlafsX63) and an in-frame 9-base-pair deletion (c.907_915del9) in exon 7 (p.Ile303_Gln305del).
  • Both identified deletions were de novo and previously undescribed.
  • These findings expand the known genotypic spectrum of the STK11 gene.

Conclusions:

  • The study identified two novel, de novo STK11 gene deletions in Thai PJS patients.
  • These findings contribute to a broader understanding of the genetic basis of Peutz-Jeghers syndrome.
  • Further research into STK11 mutations can improve PJS diagnosis and management.

More Related Videos

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...