Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome
نویسندگان
چکیده
منابع مشابه
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 conventiona...
متن کاملELECTRONIC LETTER LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome
E Volikos,* J Robinson,* K Aittomäki, J-P Mecklin, H Järvinen, A M Westerman, F W M de Rooij, T Vogel, G Moeslein, V Launonen, I P M Tomlinson, A R J Silver, L A Aaltonen . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...
متن کاملLKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome.
BACKGROUND LKB1/STK11 germline mutations cause Peutz-Jeghers syndrome (PJS). The existence of a second PJS locus is controversial, the evidence in its favour being families unlinked to LKB1 and the low frequency of LKB1 mutations found using conventional methods in several studies. Exonic and whole gene deletion or duplication events cannot be detected by routine mutation screening methods. O...
متن کاملHigh proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.
Germline mutations in the STK11 gene have been identified in 10-70% of patients with Peutz-Jeghers syndrome (PJS), an autosomal-dominant hamartomatous polyposis syndrome. A second locus was assumed in a large proportion of PJS patients. To date, STK11 alterations comprise mainly point mutations; only a small number of large deletions have been reported. We performed a mutation analysis for the ...
متن کاملPeutz-Jeghers syndrome with germline mutation of STK11
Peutz-Jeghers syndrome (PJS), also known as periorificial lentiginosis, is a rare autosomal dominant inherited disease with an incidence of 1/200,000 live-borns. Mutations in the serine-threonine kinase 11 (STK11) gene are considered the major cause of PJS. The most frequent complication at young age is recurrent intussusception due to multiple hamartomatous polyps, primarily in the small intes...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2005
ISSN: 1468-6244
DOI: 10.1136/jmg.2005.036830