Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Peutz-Jeghers syndrome

I P Tomlinson1, R S Houlston

  • 1Institute of Cancer Research, Sutton, Surrey, UK.

Journal of Medical Genetics
|January 16, 1998
PubMed
Summary
This summary is machine-generated.

Peutz-Jeghers syndrome (PJS) is an inherited disorder causing gastrointestinal polyps and skin pigmentation. Research has recently pinpointed the PJS gene location to chromosome 19p13, advancing understanding of this complex condition.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.

Annals of oncology : official journal of the European Society for Medical Oncology·2022
Same author

Correction: Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV<sup>mut</sup> and IgHV<sup>unmut</sup> subgroups.

Leukemia·2019
Same author

Runs of homozygosity and testicular cancer risk.

Andrology·2019
Same author

Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV<sup>mut</sup> and IgHV<sup>unmut</sup> subgroups.

Leukemia·2017
Same author

Mendelian randomisation analysis provides no evidence for a relationship between adult height and testicular cancer risk.

Andrology·2017
Same author

Assessing the effect of obesity-related traits on multiple myeloma using a Mendelian randomisation approach.

Blood cancer journal·2017
Same journal

Longest surviving patient with a homozygous splice-altering <i>EGFR</i> pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

Journal of medical genetics·2026
Same journal

Functional characterisation and pathological significance of variants of <i>MEF2C</i> promoter in tetralogy of Fallot.

Journal of medical genetics·2026
Same journal

Identification of biallelic loss-of-function <i>PREP</i> variants in three individuals with syndromic intellectual disability.

Journal of medical genetics·2026
Same journal

Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry.

Journal of medical genetics·2026
Same journal

Interpreting <i>TP53</i> variants: somatic mosaicism and <i>ERCC6L2</i>-driven clonal evolution.

Journal of medical genetics·2026
Same journal

Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome.

Journal of medical genetics·2026
See all related articles

Area of Science:

  • Genetics
  • Oncology
  • Gastroenterology

Background:

  • Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder.
  • Characterized by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation.
  • PJS increases susceptibility to various cancers and complications like intussusception.

Purpose of the Study:

  • To identify the genetic defect underlying Peutz-Jeghers syndrome.
  • To investigate the genetic basis of PJS due to its unique clinical presentation.

Main Methods:

  • Genetic linkage analysis.
  • Gene mapping studies.

Main Results:

  • The PJS gene has been successfully mapped to chromosome 19p13.

Related Experiment Videos

  • This finding provides a critical step towards identifying the specific gene responsible for PJS.

    • Conclusions:

    • The localization of the PJS gene to chromosome 19p13 is a significant advancement.
    • This discovery facilitates further research into the molecular mechanisms of PJS and associated cancer risks.