Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome.
BACKGROUND
Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant cancer predisposition syndrome characterised by oro-facial pigmentation and hamartomatous polyposis of the gastrointestinal tract. A causal germline mutation in STK11 can be identified in 30% to 80% of PJS patients.


METHODS
Here we report the comprehensive mutational analysis of STK11 in 38 PJS probands applying conventional PCR based mutation detection methods and the recently introduced MLPA (multiplex ligation dependent probe amplification) technique developed for the identification of exonic deletions/duplications.


RESULTS
Nineteen of 38 probands (50%) had detectable point mutations or small scale deletions/insertions and six probands (16%) had genomic deletions encompassing one or more STK11 exons.


CONCLUSIONS
These findings demonstrate that exonic STK11 deletions are a common cause of PJS and provide a strong rationale for conducting a primary screen for such mutations in patients.
Hearle
N C M
NC
Rudd
M F
MF
Lim
W
W
Murday
V
V
Lim
A G
AG
Phillips
R K
RK
Lee
P W
PW
O'donohue
J
J
Morrison
P J
PJ
Norman
A
A
Hodgson
S V
SV
Lucassen
A
A
Houlston
R S
RS
D000091162:AMP-Activated Protein Kinase Kinases; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D021141:Nucleic Acid Amplification Techniques; D010580:Peutz-Jeghers Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D017354:Point Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017384:Sequence Deletion
D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases