Molecular Genetics of Peutz-Jegher Syndrome

DOI

10.2991/idsm-17.2018.19How to use a DOI?

Keywords

Peutz??"Jegher Syndrome, STK11 gene, Genetics, Mutation

Abstract

Peutz-Jeghers Syndrome (PJS) is one of the inherited syndromes associated with polyposis. It is characterized by mucocutaneous pigmentation, especially in the vermilion border of the lips and gastrointestinal tract. This is known as hamartomatous polyposis. The disease results from an autosomal dominant mu-tation localized in the LKB1 (liver kinase B1) or STK11 (serine/threonine kinase 11) gene on chromosome 19p13.3. The STK11 gene plays a role as a tumor sup-pressor gene. Mutation in STK11 results in an abnormally shortened or truncated protein, transcriptional splicing errors, and loss of kinase activity. Therefore, so-matic inactivation of STK11 will cause formation of hamartomas and tumors in PJS. Yoon et al. identified several types of STK11 gene mutation, including non-sense, missense, splicing site, and ameshift mutations. The other mutation STK11 lead to complications such as cancers, surgical treatment, and increased numbers of polyps. Another mechanism for the inactivation of tumor suppresor genes is promoter hypermethylation of normally unmethylated CpG islands located in promoter regions of DNA repair and tumor suppressor genes. In conclusion, STK11/LKB1 gene mutation is the etiology of PJS.

Copyright

© 2018, the Authors. Published by Atlantis Press.

Open Access

This is an open access article distributed under the CC BY-NC license (http://creativecommons.org/licenses/by-nc/4.0/).

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TY  - CONF
AU  - Monica Monica
AU  - Elza Ibrahim Auerkari
PY  - 2018/05
DA  - 2018/05
TI  - Molecular Genetics of Peutz-Jegher Syndrome
BT  - Proceedings of the 11th International Dentistry Scientific Meeting (IDSM 2017)
PB  - Atlantis Press
SP  - 142
EP  - 159
SN  - 2468-5739
UR  - https://doi.org/10.2991/idsm-17.2018.19
DO  - 10.2991/idsm-17.2018.19
ID  - Monica2018/05
ER  -