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000128815 0247_ $$2ISSN$$a1432-1203
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000128815 1001_ $$0P:(DE-He78)81d14a5d74f69c16e5e1cd0144cd955c$$aHutter, Sonja$$b0$$eFirst author$$udkfz
000128815 245__ $$aNo correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
000128815 260__ $$aBerlin$$bSpringer$$c2016
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000128815 520__ $$aNeurofibromatosis type 1 (NF1) is a common monogenic disorder whereby affected individuals are predisposed to developing CNS tumors, including optic pathway gliomas (OPGs, occurring in ~15 to 20 % of cases). So far, no definite genotype-phenotype correlation determining NF1 patients at risk for tumor formation has been described, although enrichment for mutations in the 5' region of the NF1 gene in OPG patients has been suggested. We used whole exome sequencing, targeted sequencing, and copy number analysis to screen 77 unrelated NF1 patients with (n = 41) or without (n = 36; age ≥10 years) optic pathway glioma for germline NF1 alterations. We identified germline NF1 mutations in 69 of 77 patients (90 %), but no genotype-phenotype correlation was observed. Our data using a larger patient cohort did not confirm the previously reported clustering of mutations in the 5' region of the NF1 gene in patients with OPG. Thus, NF1 mutation location should not currently be used as a clinical criterion to assess the risk of developing OPGs.
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000128815 650_7 $$2NLM Chemicals$$aNeurofibromin 1
000128815 7001_ $$0P:(DE-HGF)0$$aPiro, Rosario M$$b1
000128815 7001_ $$aWaszak, Sebastian M$$b2
000128815 7001_ $$aKehrer-Sawatzki, Hildegard$$b3
000128815 7001_ $$aFriedrich, Reinhard E$$b4
000128815 7001_ $$aLassaletta, Alvaro$$b5
000128815 7001_ $$0P:(DE-He78)143af26de9d57bf624771616318aaf7c$$aWitt, Olaf$$b6$$udkfz
000128815 7001_ $$aKorbel, Jan O$$b7
000128815 7001_ $$0P:(DE-He78)e13b4363c5fe858044ef8a39c02c870c$$aLichter, Peter$$b8$$udkfz
000128815 7001_ $$0P:(DE-HGF)0$$aSchuhmann, Martin U$$b9
000128815 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b10$$udkfz
000128815 7001_ $$aTabori, Uri$$b11
000128815 7001_ $$aMautner, Victor F$$b12
000128815 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David$$b13$$eLast author$$udkfz
000128815 773__ $$0PERI:(DE-600)1459188-1$$a10.1007/s00439-016-1646-x$$gVol. 135, no. 5, p. 469 - 475$$n5$$p469 - 475$$tHuman genetics <Berlin>$$v135$$x1432-1203$$y2016
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