Peutz-Jeghers syndrome pathophysiology: Difference between revisions

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==Pathophysiology==
==Pathophysiology==
===Genetics===
===Genetics===
In 1998, a gene was found to be associated with the mutation.  On [[Chromosome 19 (human)|chromosome 19]], the gene known as ''[[STK11]]'' (''LKB1'')<ref>{{cite web |url=http://us.expasy.org/cgi-bin/niceprot.pl?Q15831 |title=UniProtKB/Swiss-Prot entry Q15831 [STK11_HUMAN] Serine/threonine-protein kinase 11 |accessdate=2007-07-21 |format= |work=}}</ref> is a possible [[tumor suppressor gene]]. It is inherited in an ''Autosomal Dominant'' pattern (see [[Mendelian inheritance]]) which means that anyone who has PJS has a 50% chance of passing it onto their children.
Peutz- Jeghers syndrome is caused by a mutation in ''[[STK11]]'' (''LKB1'') tumor suppressor gene  On [[Chromosome 19 (human)|chromosome 19]].<ref>Jenne DE, et al. 'Peutz-Jeghers Syndrome Is Caused By Mutations In A Novel Serine Threonine Kinase. - Pubmed - NCBI'. Ncbi.nlm.nih.gov. N.p., 2015. Web. 9 Sept. 2015.</ref> It is inherited in an ''Autosomal Dominant'' pattern (see [[Mendelian inheritance]]) which means that anyone who has Peutz-Jeghers syndrome (PJS) has a 50% chance of passing it onto his/her offspring.


== References ==
== References ==
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[[fr:Syndrome de Peutz-Jeghers]]
[[it:Sindrome di Peutz-Jeghers]]
[[nl:Syndroom van Peutz-Jeghers]]
[[pl:Zespół Peutza-Jeghersa]]
[[tr:Peutz-Jeghers sendromu]]


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Revision as of 14:15, 9 September 2015

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Peutz-Jeghers syndrome is transmitted in autosomal dominant pattern.

Pathophysiology

Genetics

Peutz- Jeghers syndrome is caused by a mutation in STK11 (LKB1) tumor suppressor gene On chromosome 19.[1] It is inherited in an Autosomal Dominant pattern (see Mendelian inheritance) which means that anyone who has Peutz-Jeghers syndrome (PJS) has a 50% chance of passing it onto his/her offspring.

References

  1. Jenne DE, et al. 'Peutz-Jeghers Syndrome Is Caused By Mutations In A Novel Serine Threonine Kinase. - Pubmed - NCBI'. Ncbi.nlm.nih.gov. N.p., 2015. Web. 9 Sept. 2015.

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