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Messiaen , Ludwine M; Vogt , Julia; Bengesser , Kathrin; Fu , Chuanhua; Mikhail , Fady; Serra , Eduard; Garcia-Linares , Carles; Cooper , David N.; Lázaro , Conxi; Kehrer-Sawatzki , Hildegard (2011)
Publisher: Wiley
Languages: English
Types: Article
Subjects: Life Sciences
Abstract Mosaicism is an important feature of type-1 neurofibromatosis (NF1) on account of its impact upon both clinical manifestations and transmission risk. Using FISH and MLPA to screen 3500 NF1 patients, we identified 146 individuals harbouring gross NF1 deletions, 14 of whom (9.6%) displayed somatic mosaicism. The high rate of mosaicism in patients with NF1 deletions supports the postulated idea of a direct relationship between the high new mutation rate in this cancer predisposition syndrome and the frequency of mosaicism. Seven of the 14 mosaic NF1 deletions were type-2, whereas 4 were putatively type-1, and three were atypical. Two of the 4 probable type-1 deletions were confirmed as such by breakpoint-spanning PCR or SNP analysis. Both deletions were associated with a generalized manifestation of NF1. Independently, we identified a third patient with a mosaic type-1 NF1 deletion who exhibited segmental NF1. Together, these three cases constitute the first proven mosaic type-1 deletions so far reported. In two of these three mosaic type-1 deletions, the breakpoints were located within PRS1 and PRS2, previously identified as hotspots for non-allelic homologous recombination (NAHR) during meiosis. Hence, NAHR within PRS1 and PRS2 is not confined to meiosis but may also occur during postzygotic mitotic cell cycles. : I shall not be available for reviewing work during the following time periods: 22nd -29th June, 18th -23rd July, 6th-31st August and 12th-31st October.; ON HOLIDAY first two weeks of AUG 2006 **CANNOT CE OR REFEREE UNTIL 20 MARCH 2006**; Cooper, David, merged with this user on 18-Sep-2009 by Murray, Christine; (Cooper, David N.) : Lazaro, Conxi, merged with this user on 26-Nov-2007 by Murray, Christine; 7 Dec 2005 account with Record No. 1412918 merged into this account by Srjdan Sekulic Comments from Account 1412918: (Lazaro, Conxi) (Messiaen, Ludwine M) (Vogt, Julia) (Bengesser, Kathrin) (Fu, Chuanhua) (Mikhail, Fady) (Serra, Eduard) (Garcia-Linares, Carles) (Cooper, David N.) (Lazaro, Conxi) (Kehrer-Sawatzki, Hildegard) University of Alabama at Birmingham, Department of Genetics - Birmingham - UNITED STATES (Messiaen, Ludwine M) University of Ulm, Human Genetics - Ulm - GERMANY (Vogt, Julia) University of Ulm, Human Genetics - Ulm - GERMANY (Bengesser, Kathrin) University of Alabama at Birmingham, Department of Genetics - Birmingham - UNITED STATES (Fu, Chuanhua) University of Alabama at Birmingham, Department of Genetics - Birmingham - UNITED STATES (Mikhail, Fady) IMPPC, Hereditary Cancer Program - Carretera de Can Ruti. Cami de les Escoles s/n--> - 08916 - Badalona - SPAIN (Serra, Eduard) IMPPC, Hereditary Cancer Program - Carretera de Can Ruti. Cami de les Escoles s/n--> - 08916 - Badalona - SPAIN (Garcia-Linares, Carles) Cardiff University, Institute of Medical Genetics, College of Medicine - Heath Park--> - CF14 4XN - Cardiff - UNITED KINGDOM (Cooper, David N.) UNITED KINGDOM (Cooper, David N.) Catalan Institute of Oncology (ICO), Translational Research Laboratory - Gran Via s/n km 2.7--> - 08907 - Barcelona - SPAIN (Lazaro, Conxi) SPAIN (Lazaro, Conxi) University of Ulm - Albert-Einstein-Allee 11--> - 89081 - Ulm - GERMANY (Kehrer-Sawatzki, Hildegard) GERMANY SPAIN UNITED KINGDOM UNITED STATES
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    • r u Page 33 of 33 Tinschert et al., [2000] SNF1-2/ Maertens et al., [2007] SNF1-1/ Maertens et al., [2007] Consoli et al., [2005]
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