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Splicing signature analysis of RNU4-2, RNU5A-1 and RNU5B-1

Pathogenic variants in the snRNA RNU4-2 were recently described as a frequent cause of neurodevelopmental disorders. In our study we further delineate the phenotype associated with RNU4-2 and we also identify pathogenic variants in RNU5A-A and RNU5B-1. Capture-based RNA-Seq were performed to compare splicing pattern between affected and control individuals. A strong signature based on alternative 5' splice site usage was found for RNU4-2 patients, and we suggest an either 5' or 3' signature depending on the variant's localiztion in U5 genes.

Type: RNASeq
Archiver: European Genome-phenome Archive (EGA)

1 Dataset 2 Publications

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000001299	This dataset has RNA-Seq fastq files which were generated as part of the snRNA splicing signature study. Analysis can be performed to regenerate splicing signatures found for RNU4-2, RNU5B-1 and RNU5A-1 by comparing cases versus controls.	NextSeq 550	46

Publications	Citations
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption. Nava C, Cogne B, Santini A, Leitão E, Lecoquierre F, Chen Y, Stenton SL, Besnard T, Heide S, Baer S, Jakhar A, Neuser S, Keren B, Faudet A, Forlani S, Faoucher M, Uguen K, Platzer K, Afenjar A, Alessandri JL, Andres S, Angelini C, Aral B, Arveiler B, Attie-Bitach T, Aubert Mucca M, Banneau G, Barakat TS, Barcia G, Baulac S, Beneteau C, Benkerdou F, Bernard V, Bézieau S, Bonneau D, Bonnet-Dupeyron MN, Boussion S, Boute O, Brischoux-Boucher E, Bryen SJ, Buratti J, Busa T, Caliebe A, Capri Y, Cassinari K, Caumes R, Cenni C, Chambon P, Charles P, Christodoulou J, Colson C, Conrad S, Cospain A, Coursimault J, Courtin T, Couse M, Coutton C, Creveaux I, D'Gama AM, Dauriat B, de Sainte Agathe JM, Del Gobbo G, Delahaye-Duriez A, Delanne J, Denommé-Pichon AS, Dieux-Coeslier A, Do Souto Ferreira L, Doco-Fenzy M, Drukewitz S, Duboc V, Dubourg C, Duffourd Y, Dyment D, El Chehadeh S, Elmaleh M, Faivre L, Fennelly S, Fischer H, Fradin M, Galludec Vaillant C, Ganne B, Ghoumid J, Goel H, Gokce-Samar Z, Goldenberg A, Gonfreville Robert R, Gorokhova S, Goujon L, Granier V, Gras M, Greally JM, Greiten B, Gueguen P, Guerrot AM, Guha S, Guimier A, Haack TB, Hadj Abdallah H, Halleb Y, Harbuz R, Harris M, Hentschel J, Héron B, Hitz MP, Innes AM, Jadas V, Januel L, Jean-Marçais N, Jobanputra V, Jobic F, Jornea L, Jost C, Julia S, Kaiser FJ, Kaschta D, Kaya S, Ketteler P, Khadija B, Kilpert F, Knopp C, Kraft F, Krey I, Lackmy M, Laffargue F, Lambert L, Lamont R, Laugel V, Laurie S, Lauzon JL, Lebreton L, Lebrun M, Legendre M, Leguern E, Lehalle D, Lejeune E, Lesca G, Lesieur-Sebellin M, Levy J, Linglart A, Lyonnet S, Lüthy K, Ma AS, Mach C, Mandel JL, Mansour-Hendili L, Marcadier J, Marin V, Margot H, Marquet V, May A, Mayr JA, Meridda C, Michaud V, Michot C, Nadeau G, Naudion S, Nguyen L, Nizon M, Nowak F, Odent S, Olin V, Osei-Owusu IA, Osmond M, Õunap K, Pasquier L, Passemard S, Pauly M, Patat O, Pensec M, Perrin-Sabourin L, Petit F, Philippe C, Planes M, Poduri A, Poirsier C, Pouzet A, Prince B, Prouteau C, Pujol A, Racine C, Rama M, Ramond F, Ranguin K, Raway M, Reis A, Renaud M, Revencu N, Richard AC, Riera-Navarro L, Rius R, Rodriguez D, Rodriguez-Palmero A, Rondeau S, Roser-Unruh A, Rougeot Jung C, Safraou H, Satre V, Saugier-Veber P, Sauvestre C, Schaefer E, Shao W, Schanze I, Schlump JU, Schlüter Martin A, Schluth-Bolard C, Schuhmann S, Schröder C, Sebastin M, Sigaudy S, Spielmann M, Spodenkiewicz M, St Clair L, Steffann J, Stoeva R, Surowy H, Tarnopolsky MA, Todosi C, Toutain A, Tran Mau-Them F, Unterlauft A, Van-Gils J, Vanlerberghe C, Vasileiou G, Vera G, Verdel A, Verloes A, Vial Y, Vignal C, Vincent M, Vincent-Delorme C, Vincent-Devulder A, Vitobello A, Weber S, Willems M, Zaafrane-Khachnaoui K, Zacher P, Zeltner L, Ziegler A, Galej WP, Dollfus H, Thauvin C, Boycott KM, Marijon P, Lermine A, Malan V, Rio M, Kuechler A, Isidor B, Drunat S, Smol T, Chatron N, Piton A, Nicolas G, Wagner M, Abou Jamra R, Héron D, Mignot C, Blanc P, O'Donnell-Luria A, Whiffin N, Charbonnier C, Charenton C, Thevenon J, Depienne C. Nat Genet 57: 2025 1374-1388	31
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes. Rius R, Blakes AJM, Chen Y, De Jonghe J, Lecoquierre F, Dawes R, Cogne B, Kim HC, Alvi JR, Amblard F, Ansari M, Arlt A, Austin-Tse C, Baer S, Balasubramanian M, Balton EV, Barcia G, Beleza-Meireles A, Bernstein JA, Beygo J, Blanc P, Bramswig NC, Braun F, Buchzik D, Calame DG, Campbell J, Coutton C, Cunningham CA, Dargie N, Depienne C, Dipple KM, Dieux A, Dixit A, Dreyer L, Du H, El Chehadeh S, Field M, Ewans LJ, Geiger V, Gibbs RA, Glass I, Grunewald O, Gueguen P, Haack TB, Hadj Abdallah H, Harbuz R, Helbig I, Horvath J, Hustinx A, Isidor B, Jacquemont ML, Jamie F, Jeanne M, Kessler R, Klinkhammer H, Korenke GC, Kotzaeridou U, Krawitz P, Laurie S, Leventer RJ, Levy RJ, Lupski JR, Marijon P, McGinnis KE, Mendez R, Messaoud O, Nava C, Nizard M, O'Donnell-Luria A, O'Leary MC, Olivieri S, Parida A, Pehlivan D, Prentice AJ, Posey JE, Reuter CM, Satre V, Schluth-Bolard C, Smol T, Sultan T, Taylor J, Thauvin-Robinetvin C, Thevenon J, Uebergang E, Ueberberg S, Vincent-Delorme C, Wassmer E, Westwood E, Wheeler MT, Gulec EY, Vanderver A, Vossough A, Sanders SJ, Banka S, Findlay GM, MacArthur DG, Simons C, Whiffin N. Nat Genet 58: 2026 761-773	0

Publications

Citations

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Nava C, Cogne B, Santini A, Leitão E, Lecoquierre F, Chen Y, Stenton SL, Besnard T, Heide S, Baer S, Jakhar A, Neuser S, Keren B, Faudet A, Forlani S, Faoucher M, Uguen K, Platzer K, Afenjar A, Alessandri JL, Andres S, Angelini C, Aral B, Arveiler B, Attie-Bitach T, Aubert Mucca M, Banneau G, Barakat TS, Barcia G, Baulac S, Beneteau C, Benkerdou F, Bernard V, Bézieau S, Bonneau D, Bonnet-Dupeyron MN, Boussion S, Boute O, Brischoux-Boucher E, Bryen SJ, Buratti J, Busa T, Caliebe A, Capri Y, Cassinari K, Caumes R, Cenni C, Chambon P, Charles P, Christodoulou J, Colson C, Conrad S, Cospain A, Coursimault J, Courtin T, Couse M, Coutton C, Creveaux I, D'Gama AM, Dauriat B, de Sainte Agathe JM, Del Gobbo G, Delahaye-Duriez A, Delanne J, Denommé-Pichon AS, Dieux-Coeslier A, Do Souto Ferreira L, Doco-Fenzy M, Drukewitz S, Duboc V, Dubourg C, Duffourd Y, Dyment D, El Chehadeh S, Elmaleh M, Faivre L, Fennelly S, Fischer H, Fradin M, Galludec Vaillant C, Ganne B, Ghoumid J, Goel H, Gokce-Samar Z, Goldenberg A, Gonfreville Robert R, Gorokhova S, Goujon L, Granier V, Gras M, Greally JM, Greiten B, Gueguen P, Guerrot AM, Guha S, Guimier A, Haack TB, Hadj Abdallah H, Halleb Y, Harbuz R, Harris M, Hentschel J, Héron B, Hitz MP, Innes AM, Jadas V, Januel L, Jean-Marçais N, Jobanputra V, Jobic F, Jornea L, Jost C, Julia S, Kaiser FJ, Kaschta D, Kaya S, Ketteler P, Khadija B, Kilpert F, Knopp C, Kraft F, Krey I, Lackmy M, Laffargue F, Lambert L, Lamont R, Laugel V, Laurie S, Lauzon JL, Lebreton L, Lebrun M, Legendre M, Leguern E, Lehalle D, Lejeune E, Lesca G, Lesieur-Sebellin M, Levy J, Linglart A, Lyonnet S, Lüthy K, Ma AS, Mach C, Mandel JL, Mansour-Hendili L, Marcadier J, Marin V, Margot H, Marquet V, May A, Mayr JA, Meridda C, Michaud V, Michot C, Nadeau G, Naudion S, Nguyen L, Nizon M, Nowak F, Odent S, Olin V, Osei-Owusu IA, Osmond M, Õunap K, Pasquier L, Passemard S, Pauly M, Patat O, Pensec M, Perrin-Sabourin L, Petit F, Philippe C, Planes M, Poduri A, Poirsier C, Pouzet A, Prince B, Prouteau C, Pujol A, Racine C, Rama M, Ramond F, Ranguin K, Raway M, Reis A, Renaud M, Revencu N, Richard AC, Riera-Navarro L, Rius R, Rodriguez D, Rodriguez-Palmero A, Rondeau S, Roser-Unruh A, Rougeot Jung C, Safraou H, Satre V, Saugier-Veber P, Sauvestre C, Schaefer E, Shao W, Schanze I, Schlump JU, Schlüter Martin A, Schluth-Bolard C, Schuhmann S, Schröder C, Sebastin M, Sigaudy S, Spielmann M, Spodenkiewicz M, St Clair L, Steffann J, Stoeva R, Surowy H, Tarnopolsky MA, Todosi C, Toutain A, Tran Mau-Them F, Unterlauft A, Van-Gils J, Vanlerberghe C, Vasileiou G, Vera G, Verdel A, Verloes A, Vial Y, Vignal C, Vincent M, Vincent-Delorme C, Vincent-Devulder A, Vitobello A, Weber S, Willems M, Zaafrane-Khachnaoui K, Zacher P, Zeltner L, Ziegler A, Galej WP, Dollfus H, Thauvin C, Boycott KM, Marijon P, Lermine A, Malan V, Rio M, Kuechler A, Isidor B, Drunat S, Smol T, Chatron N, Piton A, Nicolas G, Wagner M, Abou Jamra R, Héron D, Mignot C, Blanc P, O'Donnell-Luria A, Whiffin N, Charbonnier C, Charenton C, Thevenon J, Depienne C. Nat Genet 57: 2025 1374-1388

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
Rius R, Blakes AJM, Chen Y, De Jonghe J, Lecoquierre F, Dawes R, Cogne B, Kim HC, Alvi JR, Amblard F, Ansari M, Arlt A, Austin-Tse C, Baer S, Balasubramanian M, Balton EV, Barcia G, Beleza-Meireles A, Bernstein JA, Beygo J, Blanc P, Bramswig NC, Braun F, Buchzik D, Calame DG, Campbell J, Coutton C, Cunningham CA, Dargie N, Depienne C, Dipple KM, Dieux A, Dixit A, Dreyer L, Du H, El Chehadeh S, Field M, Ewans LJ, Geiger V, Gibbs RA, Glass I, Grunewald O, Gueguen P, Haack TB, Hadj Abdallah H, Harbuz R, Helbig I, Horvath J, Hustinx A, Isidor B, Jacquemont ML, Jamie F, Jeanne M, Kessler R, Klinkhammer H, Korenke GC, Kotzaeridou U, Krawitz P, Laurie S, Leventer RJ, Levy RJ, Lupski JR, Marijon P, McGinnis KE, Mendez R, Messaoud O, Nava C, Nizard M, O'Donnell-Luria A, O'Leary MC, Olivieri S, Parida A, Pehlivan D, Prentice AJ, Posey JE, Reuter CM, Satre V, Schluth-Bolard C, Smol T, Sultan T, Taylor J, Thauvin-Robinetvin C, Thevenon J, Uebergang E, Ueberberg S, Vincent-Delorme C, Wassmer E, Westwood E, Wheeler MT, Gulec EY, Vanderver A, Vossough A, Sanders SJ, Banka S, Findlay GM, MacArthur DG, Simons C, Whiffin N. Nat Genet 58: 2026 761-773