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Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients.

Wang, Z J; Churchman, M; Avizienyte, E; McKeown, C; Davies, S; Evans, D G; Ferguson, A; Ellis, I; Xu, W H; Yan, Z Y; Aaltonen, L A; Tomlinson, I P

Journal of medical genetics. 1999;36(5):365-8.

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Abstract

Germline mutations of the LKB1 (STK11) serine/threonine kinase gene (chromosome 19p13.3) cause Peutz-Jeghers syndrome, which is characterised by hamartomas of the gastrointestinal tract and typical pigmentation. Peutz-Jeghers syndrome carries an overall risk of cancer that may be up to 20 times that of the general population. Here, we report the results of a screen for germline LKB1 mutations by DNA sequencing in 12 Peutz-Jeghers patients (three sporadic and nine familial cases). Mutations were found in seven (58%) cases, in exons 1, 2, 4, 6, and 9. Five of these mutations, two of which are identical, are predicted to lead to a truncated protein (three frameshifts, two nonsense changes). A further mutation is an in frame deletion of 6 bp, resulting in a deletion of lysine and asparagine; the second of these amino acids is conserved between species. The seventh mutation is a missense change in exon 2, converting lysine to arginine, affecting non-conserved amino acids and of uncertain functional significance. Despite the fact that Peutz-Jeghers syndrome is usually an early onset disease with characteristic clinical features, predictive and diagnostic testing for LKB1 mutations will be useful for selected patients in both familial and non-familial contexts.

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Publication type:
Published date:
Abbreviated journal title:
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Place of publication:
ENGLAND
Volume:
36
Issue:
5
Pagination:
365-8
Pubmed Identifier:
10353780
Access state:
Active

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Record metadata

Manchester eScholar ID:
uk-ac-man-scw:210848
Created by:
Evans, Gareth
Created:
12th October, 2013, 14:23:54
Last modified by:
Evans, Gareth
Last modified:
12th October, 2013, 14:23:54

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