| 1 | HCAHC, HLD7, POLR3A, POLR3B
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| Dystonia in RNA Polymerase III-Related Leukodystrophy
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| Al Yazidi G, Tran LT, Guerrero K, Vanderver A, Schiffmann R, Wolf NI, Chouinard S, Bernard G
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| Mov Disord Clin Pract. Jan 9;6(2):155-159. doi: 10.1002/mdc3.12715. 2019
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| 2 | HLD7, POLR3A
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| A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.
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| Tewari VV, Mehta R, Sreedhar CM, Tewari K, Mohammad A, Gupta N, Gulati S, Kabra M.
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| BMC Pediatr 18(1):126. doi: 10.1186/s12887-018-1108-9.
2018
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| 3 | HCAHC, HLD7, POLR3A, POLR3B
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| Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.
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| Ghoumid J, Petit F, Boute-Benejean O, Frenois F, Cartigny M, Vanlerberghe C, Smol T, Caumes R, de Roux N, Manouvrier-Hanu S.
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| Eur J Hum Genet 25(8):1011-1014. doi: 10.1038/ejhg.2017.73. Epub 2017 Jun 7.
2017
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| 4 | HLD7, POLR3A
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| Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
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| Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R.
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| Brain 140(6):1561-1578. doi: 10.1093/brain/awx095. Erratum in: Brain. 2017 Dec 9;:.
2017
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| 5 | HCAHC, HLD7, POLR3A, POLR3B
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| Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.
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| Daoud H, Tétreault M, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J, Synofzik M, Brais B, Stevens CA, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A, Bernard G.
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| J Med Genet Med Genet. 2013 M 2013
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| 6 | HLD7, POLR3A
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| Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
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| Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B.
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| Am J Hum Genet 89(3):415-23. doi: 10.1016/j.ajhg.2011.07.014.
2011
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| 7 | HLD7
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| A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.
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| Chouery E, Delague V, Jalkh N, Salem N, Kfoury J, Rodriguez D, Chabrol B, Boespflug-Tanguy O, Lévy N, Serre JL, Mégarbané A.
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| Neurogenetics 12(1):73-8. Epub 2010 Aug 19.
2011
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| 8 | HCAHC, HLD7, POLR3A, POLR3B
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| Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy.
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| Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shibayama H, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N.
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| Am J Hum Genet 89(5):644-51. Epub 2011 Oct 27. 2011
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| 9 | HCAHC, HLD7, POLR3B, POLRE3A
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| Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy.
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| Tétreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G.
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| Am J Hum Genet 89(5):652-5. Epub 2011 Oct 27. 2011
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| 10 | HLD7, POLR3A
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| Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.
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| Bernard G, Thiffault I, Tetreault M, Putorti ML, Bouchard I, Sylvain M, Melançon S, Laframboise R, Langevin P, Bouchard JP, Vanasse M, Vanderver A, Sébire G, Brais B.
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| Neurogenetics 11(4):457-64. Epub 2010 Jul 17.
2010
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| 11 | HLD7
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| Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia.
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| Timmons M, Tsokos M, Asab MA, Seminara SB, Zirzow GC, Kaneski CR, Heiss JD, van der Knaap MS, Vanier MT, Schiffmann R, Wong K.
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| Neurology 67(11):2066-9.
2006
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| 12 | HLD7
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| Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.
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| Wolf NI, Harting I, Boltshauser E, Wiegand G, Koch MJ, Schmitt-Mechelke T, Martin E, Zschocke J, Uhlenberg B, Hoffmann GF, Weber L, Ebinger F, Rating D.
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| Neurology 64(8):1461-4.
2005
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