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000140009 0247_ $$2doi$$a10.1111/ene.13625
000140009 0247_ $$2pmid$$apmid:29528531
000140009 0247_ $$2ISSN$$a1351-5101
000140009 0247_ $$2ISSN$$a1468-1331
000140009 0247_ $$2ISSN$$a1471-0552
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000140009 037__ $$aDZNE-2020-06331
000140009 041__ $$aEnglish
000140009 082__ $$a610
000140009 1001_ $$aRydning, S. L.$$b0
000140009 245__ $$aA novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.
000140009 260__ $$aOxford$$bBlackwell Science78889$$c2018
000140009 264_1 $$2Crossref$$3online$$bWiley$$c2018-04-15
000140009 264_1 $$2Crossref$$3print$$bWiley$$c2018-07-01
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000140009 520__ $$aHereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous monogenic disorders. To date, nearly 70 genes are known to be causative. The aim of this project was to identify the genetic cause of autosomal dominantly inherited pure HSP in two large, unrelated non-consanguineous families.The two families were characterized clinically and selected members underwent whole exome sequencing. Potentially disease-causing variants were confirmed by Sanger sequencing and their functional consequences on protein function were predicted by bioinformatic prediction tools.The patients presented with pure spastic paraplegia with age of onset between 9 and 46 years. In both families, a novel heterozygous missense variant in ERLIN2, c.386G>C; p.Ser129Thr, was the only potentially pathogenic variant identified that segregated with the disease.Biallelic variants in ERLIN2 are known to cause recessive HSP type SPG18. Here, the first two families with an autosomal dominant, pure form of HSP caused by a novel ERLIN2 heterozygous missense variant are described. These findings expand the mutational and inheritance spectrum of SPG18. ERLIN2 variants should also be considered in the diagnostic evaluation of patients with autosomal dominant HSP.
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000140009 650_7 $$2NLM Chemicals$$aERLIN2 protein, human
000140009 650_7 $$2NLM Chemicals$$aMembrane Proteins
000140009 650_2 $$2MeSH$$aAdult
000140009 650_2 $$2MeSH$$aFemale
000140009 650_2 $$2MeSH$$aHeterozygote
000140009 650_2 $$2MeSH$$aHumans
000140009 650_2 $$2MeSH$$aMale
000140009 650_2 $$2MeSH$$aMembrane Proteins: genetics
000140009 650_2 $$2MeSH$$aMiddle Aged
000140009 650_2 $$2MeSH$$aMutation
000140009 650_2 $$2MeSH$$aPedigree
000140009 650_2 $$2MeSH$$aSpastic Paraplegia, Hereditary: genetics
000140009 7001_ $$0P:(DE-2719)2811832$$aDudesek, A.$$b1$$udzne
000140009 7001_ $$0P:(DE-2719)2811833$$aRimmele, F.$$b2$$udzne
000140009 7001_ $$aFunke, C.$$b3
000140009 7001_ $$0P:(DE-HGF)0$$aKrüger, S.$$b4
000140009 7001_ $$0P:(DE-2719)9000027$$aBiskup, Saskia$$b5$$udzne
000140009 7001_ $$aVigeland, M. D.$$b6
000140009 7001_ $$aHjorthaug, H. S.$$b7
000140009 7001_ $$aSejersted, Y.$$b8
000140009 7001_ $$aTallaksen, C.$$b9
000140009 7001_ $$aSelmer, K. K.$$b10
000140009 7001_ $$0P:(DE-HGF)0$$aKamm, C.$$b11$$eCorresponding author
000140009 77318 $$2Crossref$$3journal-article$$a10.1111/ene.13625$$b : Wiley, 2018-04-15$$n7$$p943-e71$$tEuropean Journal of Neurology$$v25$$x1351-5101$$y2018
000140009 773__ $$0PERI:(DE-600)2020241-6$$a10.1111/ene.13625$$gVol. 25, no. 7, p. 943 - e71$$n7$$p943-e71$$q25:7<943 - e71$$tEuropean journal of neurology$$v25$$x1351-5101$$y2018
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