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000140192 0247_ $$2doi$$a10.1111/cge.13390
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000140192 037__ $$aDZNE-2020-06514
000140192 041__ $$aEnglish
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000140192 1001_ $$0P:(DE-2719)2811940$$aHengel, H.$$b0$$eFirst author$$udzne
000140192 245__ $$aGPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia.
000140192 260__ $$aMalden, Mass.$$bWiley$$c2018
000140192 264_1 $$2Crossref$$3online$$bWiley$$c2018-07-10
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000140192 520__ $$aVarious genetic defects can cause intellectual and developmental disabilities (IDDs). Often IDD is a symptom of a more complex neurodevelopmental or neurodegenerative syndrome. Identifying syndromic patterns is substantive for diagnostics and for understanding the pathomechanism of a disease. Recessive glutamate pyruvate transaminase (GPT2) mutations have recently been associated with IDD in 4 families. Here, we report a novel recessive GPT2 stop mutation p.Gln24* causing a complex IDD phenotype in a homozygous state in 5 patients from 2 consanguineous Arab families. By compiling clinical information of these individuals and previously described GPT2 patients a recognizable neurodevelopmental and potentially neurodegenerative phenotype can be assigned consisting of intellectual disability, pyramidal tract affection with spastic paraplegia, microcephaly and frequently epilepsy. Because of the consistent presence of pyramidal tract affection in GPT2 patients, we further suggest that GPT2 mutations should be considered in cases with complex hereditary spastic paraplegia.
000140192 536__ $$0G:(DE-HGF)POF3-345$$a345 - Population Studies and Genetics (POF3-345)$$cPOF3-345$$fPOF III$$x0
000140192 542__ $$2Crossref$$i2018-07-10$$uhttp://doi.wiley.com/10.1002/tdm_license_1.1
000140192 542__ $$2Crossref$$i2018-07-10$$uhttp://onlinelibrary.wiley.com/termsAndConditions#vor
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000140192 650_7 $$0EC 2.6.1.-$$2NLM Chemicals$$aGPT2 protein, human
000140192 650_7 $$0EC 2.6.1.-$$2NLM Chemicals$$aTransaminases
000140192 650_2 $$2MeSH$$aAdolescent
000140192 650_2 $$2MeSH$$aAdult
000140192 650_2 $$2MeSH$$aBrain Diseases: genetics
000140192 650_2 $$2MeSH$$aChild
000140192 650_2 $$2MeSH$$aConsanguinity
000140192 650_2 $$2MeSH$$aFemale
000140192 650_2 $$2MeSH$$aHumans
000140192 650_2 $$2MeSH$$aMale
000140192 650_2 $$2MeSH$$aMutation
000140192 650_2 $$2MeSH$$aPedigree
000140192 650_2 $$2MeSH$$aSpastic Paraplegia, Hereditary: genetics
000140192 650_2 $$2MeSH$$aTransaminases: genetics
000140192 7001_ $$aKeimer, R.$$b1
000140192 7001_ $$aDeigendesch, W.$$b2
000140192 7001_ $$aRieß, A.$$b3
000140192 7001_ $$aMarzouqa, H.$$b4
000140192 7001_ $$aZaidan, J.$$b5
000140192 7001_ $$0P:(DE-HGF)0$$aBauer, P.$$b6
000140192 7001_ $$0P:(DE-2719)2810795$$aSchöls, L.$$b7$$eLast author$$udzne
000140192 77318 $$2Crossref$$3journal-article$$a10.1111/cge.13390$$b : Wiley, 2018-07-10$$n3-4$$p356-361$$tClinical Genetics$$v94$$x0009-9163$$y2018
000140192 773__ $$0PERI:(DE-600)2004581-5$$a10.1111/cge.13390$$gVol. 94, no. 3-4, p. 356 - 361$$n3-4$$p356-361$$q94:3-4<356 - 361$$tClinical genetics$$v94$$x0009-9163$$y2018
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000140192 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2811940$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b0$$kDZNE
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