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000139303 0247_ $$2doi$$a10.1093/brain/awx095
000139303 0247_ $$2pmid$$apmid:28459997
000139303 0247_ $$2pmc$$apmc:PMC6402316
000139303 0247_ $$2ISSN$$a0006-8950
000139303 0247_ $$2ISSN$$a1460-2156
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000139303 037__ $$aDZNE-2020-05625
000139303 041__ $$aEnglish
000139303 082__ $$a610
000139303 1001_ $$aMinnerop, Martina$$b0
000139303 245__ $$aHypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
000139303 260__ $$aOxford$$bOxford Univ. Press$$c2017
000139303 264_1 $$2Crossref$$3online$$bOxford University Press (OUP)$$c2017-04-27
000139303 264_1 $$2Crossref$$3print$$bOxford University Press (OUP)$$c2017-06-01
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000139303 520__ $$aDespite extensive efforts, half of patients with rare movement disorders such as hereditary spastic paraplegias and cerebellar ataxias remain genetically unexplained, implicating novel genes and unrecognized mutations in known genes. Non-coding DNA variants are suspected to account for a substantial part of undiscovered causes of rare diseases. Here we identified mutations located deep in introns of POLR3A to be a frequent cause of hereditary spastic paraplegia and cerebellar ataxia. First, whole-exome sequencing findings in a recessive spastic ataxia family turned our attention to intronic variants in POLR3A, a gene previously associated with hypomyelinating leukodystrophy type 7. Next, we screened a cohort of hereditary spastic paraplegia and cerebellar ataxia cases (n = 618) for mutations in POLR3A and identified compound heterozygous POLR3A mutations in ∼3.1% of index cases. Interestingly, >80% of POLR3A mutation carriers presented the same deep-intronic mutation (c.1909+22G>A), which activates a cryptic splice site in a tissue and stage of development-specific manner and leads to a novel distinct and uniform phenotype. The phenotype is characterized by adolescent-onset progressive spastic ataxia with frequent occurrence of tremor, involvement of the central sensory tracts and dental problems (hypodontia, early onset of severe and aggressive periodontal disease). Instead of the typical hypomyelination magnetic resonance imaging pattern associated with classical POLR3A mutations, cases carrying c.1909+22G>A demonstrated hyperintensities along the superior cerebellar peduncles. These hyperintensities may represent the structural correlate to the cerebellar symptoms observed in these patients. The associated c.1909+22G>A variant was significantly enriched in 1139 cases with spastic ataxia-related phenotypes as compared to unrelated neurological and non-neurological phenotypes and healthy controls (P = 1.3 × 10-4). In this study we demonstrate that (i) autosomal-recessive mutations in POLR3A are a frequent cause of hereditary spastic ataxias, accounting for about 3% of hitherto genetically unclassified autosomal recessive and sporadic cases; and (ii) hypomyelination is frequently absent in POLR3A-related syndromes, especially when intronic mutations are present, and thus can no longer be considered as the unifying feature of POLR3A disease. Furthermore, our results demonstrate that substantial progress in revealing the causes of Mendelian diseases can be made by exploring the non-coding sequences of the human genome.
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000139303 536__ $$0G:(DE-HGF)POF3-345$$a345 - Population Studies and Genetics (POF3-345)$$cPOF3-345$$fPOF III$$x1
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000139303 650_7 $$0EC 2.7.7.6$$2NLM Chemicals$$aPOLR3A protein, human
000139303 650_7 $$0EC 2.7.7.6$$2NLM Chemicals$$aRNA Polymerase III
000139303 650_2 $$2MeSH$$aAged
000139303 650_2 $$2MeSH$$aCell Culture Techniques
000139303 650_2 $$2MeSH$$aExons: genetics
000139303 650_2 $$2MeSH$$aFemale
000139303 650_2 $$2MeSH$$aGenetic Association Studies
000139303 650_2 $$2MeSH$$aHumans
000139303 650_2 $$2MeSH$$aInduced Pluripotent Stem Cells
000139303 650_2 $$2MeSH$$aIntellectual Disability: diagnostic imaging
000139303 650_2 $$2MeSH$$aIntellectual Disability: genetics
000139303 650_2 $$2MeSH$$aIntellectual Disability: physiopathology
000139303 650_2 $$2MeSH$$aIntrons: genetics
000139303 650_2 $$2MeSH$$aMale
000139303 650_2 $$2MeSH$$aMiddle Aged
000139303 650_2 $$2MeSH$$aMuscle Spasticity: diagnostic imaging
000139303 650_2 $$2MeSH$$aMuscle Spasticity: genetics
000139303 650_2 $$2MeSH$$aMuscle Spasticity: physiopathology
000139303 650_2 $$2MeSH$$aMutation
000139303 650_2 $$2MeSH$$aOptic Atrophy: diagnostic imaging
000139303 650_2 $$2MeSH$$aOptic Atrophy: genetics
000139303 650_2 $$2MeSH$$aOptic Atrophy: physiopathology
000139303 650_2 $$2MeSH$$aPedigree
000139303 650_2 $$2MeSH$$aPhenotype
000139303 650_2 $$2MeSH$$aRNA Polymerase III: genetics
000139303 650_2 $$2MeSH$$aSpastic Paraplegia, Hereditary: diagnostic imaging
000139303 650_2 $$2MeSH$$aSpastic Paraplegia, Hereditary: genetics
000139303 650_2 $$2MeSH$$aSpastic Paraplegia, Hereditary: physiopathology
000139303 650_2 $$2MeSH$$aSpinocerebellar Ataxias: diagnostic imaging
000139303 650_2 $$2MeSH$$aSpinocerebellar Ataxias: genetics
000139303 650_2 $$2MeSH$$aSpinocerebellar Ataxias: physiopathology
000139303 7001_ $$0P:(DE-2719)2811322$$aKurzwelly, Delia$$b1$$udzne
000139303 7001_ $$aWagner, Holger$$b2
000139303 7001_ $$aSoehn, Anne S$$b3
000139303 7001_ $$0P:(DE-2719)2812712$$aReichbauer, Jennifer$$b4$$udzne
000139303 7001_ $$aTao, Feifei$$b5
000139303 7001_ $$0P:(DE-2719)2811827$$aRattay, Tim W$$b6$$udzne
000139303 7001_ $$0P:(DE-2719)9000249$$aPeitz, Michael$$b7$$udzne
000139303 7001_ $$0P:(DE-2719)9000259$$aRehbach, Kristina$$b8$$udzne
000139303 7001_ $$aGiorgetti, Alejandro$$b9
000139303 7001_ $$aPyle, Angela$$b10
000139303 7001_ $$aThiele, Holger$$b11
000139303 7001_ $$aAltmüller, Janine$$b12
000139303 7001_ $$aTimmann, Dagmar$$b13
000139303 7001_ $$aKaraca, Ilker$$b14
000139303 7001_ $$aLennarz, Martina$$b15
000139303 7001_ $$aBaets, Jonathan$$b16
000139303 7001_ $$0P:(DE-2719)2811940$$aHengel, Holger$$b17$$udzne
000139303 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b18$$udzne
000139303 7001_ $$0P:(DE-2719)2812917$$aAtasu, Burcu$$b19$$udzne
000139303 7001_ $$aFeely, Shawna$$b20
000139303 7001_ $$aKennerson, Marina$$b21
000139303 7001_ $$0P:(DE-2719)2812141$$aStendel, Claudia$$b22$$udzne
000139303 7001_ $$0P:(DE-HGF)0$$aLindig, Tobias$$b23
000139303 7001_ $$aGonzalez, Michael A$$b24
000139303 7001_ $$0P:(DE-2719)2810697$$aStirnberg, Rüdiger$$b25$$udzne
000139303 7001_ $$aSturm, Marc$$b26
000139303 7001_ $$0P:(DE-2719)2810395$$aRöske, Sandra$$b27$$udzne
000139303 7001_ $$0P:(DE-2719)2810891$$aJung, Johanna$$b28$$udzne
000139303 7001_ $$aBauer, Peter$$b29
000139303 7001_ $$0P:(DE-2719)2811891$$aLohmann, Ebba$$b30$$udzne
000139303 7001_ $$aHerms, Stefan$$b31
000139303 7001_ $$aHeilmann-Heimbach, Stefanie$$b32
000139303 7001_ $$aNicholson, Garth$$b33
000139303 7001_ $$aMahanjah, Muhammad$$b34
000139303 7001_ $$0P:(DE-HGF)0$$aSharkia, Rajech$$b35
000139303 7001_ $$aCarloni, Paolo$$b36
000139303 7001_ $$0P:(DE-2719)9000037$$aBrüstle, Oliver$$b37$$udzne
000139303 7001_ $$0P:(DE-2719)2810704$$aKlopstock, Thomas$$b38$$udzne
000139303 7001_ $$aMathews, Katherine D$$b39
000139303 7001_ $$aShy, Michael E$$b40
000139303 7001_ $$ade Jonghe, Peter$$b41
000139303 7001_ $$aChinnery, Patrick F$$b42
000139303 7001_ $$aHorvath, Rita$$b43
000139303 7001_ $$aKohlhase, Jürgen$$b44
000139303 7001_ $$0P:(DE-HGF)0$$aSchmitt, Ina$$b45
000139303 7001_ $$aWolf, Michael$$b46
000139303 7001_ $$aGreschus, Susanne$$b47
000139303 7001_ $$aAmunts, Katrin$$b48
000139303 7001_ $$0P:(DE-2719)2000015$$aMaier, Wolfgang$$b49$$udzne
000139303 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b50$$udzne
000139303 7001_ $$aNürnberg, Peter$$b51
000139303 7001_ $$aZuchner, Stephan$$b52
000139303 7001_ $$0P:(DE-2719)2810314$$aKlockgether, Thomas$$b53$$udzne
000139303 7001_ $$0P:(DE-HGF)0$$aRamirez, Alfredo$$b54$$eCorresponding author
000139303 7001_ $$0P:(DE-2719)2812018$$aSchüle, Rebecca$$b55$$eLast author$$udzne
000139303 77318 $$2Crossref$$3journal-article$$a10.1093/brain/awx095$$b : Oxford University Press (OUP), 2017-04-27$$n6$$p1561-1578$$tBrain$$v140$$x0006-8950$$y2017
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000139303 8567_ $$2Pubmed Central$$uhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402316
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