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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1002/bit.260380814

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ISSN

1432-1203

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Breakpoint determination of 15 large deletions in

Authors: Nicoletta Resta Roberto Giorda Rosanna Bagnulo Silvana Beri Erika Della Mina Alessandro Stella Marilidia Piglionica Francesco Claudio Susca Ginevra Guanti Orsetta Zuffardi Roberto Ciccone
Publish Date: 2010/07/11
Volume: 128, Issue: 4, Pages: 373-382
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Abstract

The Peutz–Jeghers Syndrome PJS is an autosomal dominant polyposis disorder with increased risk of multiple cancers STK11/LKB1 hereafter named STK11 germline mutations account for the large majority of PJS cases whereas large deletions account for about 30 of the cases We report here the first thorough molecular characterization of 15 large deletions identified in a cohort of 51 clinically wellcharacterized PJS patients The deletions were identified by MLPA analysis and characterized by custom CGHarray and quantitative PCR to define their boundaries The deletions ranging from 29 to 180 kb removed one or more loci contiguous to the STK11 gene in six patients while partial STK11 gene deletions were present in the remaining nine cases By means of DNA sequencing we were able to precisely characterize the breakpoints in each case Of the 30 breakpoints 16 were located in Alu elements revealing nonallelic homologous recombination NAHR as the putative mechanism for the deletions of the STK11 gene which lays in a region with high Alu density In the remaining cases other mechanisms could be hypothesized such as microhomologymediated endjoining MMEJ or nonhomologous endjoining NHEJ In conclusion we here demonstrated the nonrandom occurrence of large deletions associated with PJS All our patients had a classical PJS phenotype which shows that haploinsufficiency for SBNO2 C19orf26 ATP5D MIDN C19orf23 CIRBP C19orf24and EFNA2 does not apparently affect their clinical phenotypeWe thank all the patients and the clinicians Dr E Urso Dr L Varesco Dr P Sala Dr M Ponz de Leon Dr E Lapi and Dr C Host who provided blood samples for this work The study was supported by grants Fondazione Cassa di Risparmio di Puglia “Caratterizzazione molecolare dei geni responsabili di poliposi amartomatose intestinali finalizzata al controllo tempestivo del rischio di neoplasia” and Fondi d’ateneo RS 2007–2008–2009 Università di Bari

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