Large deletions and splicing‐site mutations in the STK11 gene in Peutz‐Jeghers Chilean families. (7th August 2012)

• Record Type: Journal Article
• Authors: Orellana, P; López‐Köstner, F; Heine, C; Suazo, C; Pinto, E; Church, J; Carvallo, P; Alvarez, K
• Is Part Of: Clinical genetics. Volume 83:Number 4(2013:Apr.)
• Page Start: 365
• Page End: 369
• Publication Date: 2012-08-07
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/j.1399-0004.2012.01928.x
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Peutz‐Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by mucocutaneous melanocytic macules, gastrointestinal hamartomatous polyposis and an increased risk of various neoplasms. Germline mutations in the serine/threonine kinase 11 (<italic>STK11</italic>) gene have been identified as a cause for PJS. The aim of this study was to characterize the genotype of Chilean PJS patients. Mutation screening of 13 patients from eight PJS families was performed using a single strand conformation polymorphism analysis, DNA sequencing and multiplex ligation‐dependent probe amplification assay. The breakpoints of the genomic rearrangements were assessed by a long‐range polymerase chain reaction and sequencing. The results revealed the existence of seven different pathogenic mutations in <italic>STK11</italic> gene in seven unrelated families, including three point mutations and four large genomic deletions. Three of these point mutations (43%, 3/7) may be considered as novel. Our results showed that a germline mutation is present in <italic>STK11</italic> in 88% of probands fulfilling the diagnostic criteria of PJS. In this study, the combination of two different experimental approaches in the screening of the <italic>STK11</italic> in PJS, led to a higher percentage of mutation detection.</p> </abstract>