SAMHD1 MUTATIONS ARE ALSO RESPONSIBLE FOR AICARDI-GOUTIERES IN THE CREE POPULATION

被引:0
|
作者
Kharrat, Ashraf [1 ]
MacKenzie, Jennifer [2 ]
Venkateswaran, Sunita [3 ]
机构
[1] Univ Toronto, Dept Paediat, Toronto, ON, Canada
[2] McMaster Univ, Dept Paediat, Hamilton, ON, Canada
[3] Univ Ottawa, Div Paediat Neurol, Dept Paediat, Ottawa, ON, Canada
关键词
Encephalopathy; Aicardi-Goutieres syndrome; Cree encephalitis; INTERFERON-ALPHA; ENCEPHALITIS; DISEASE;
D O I
10.1017/cjn.2017.226
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:749 / 751
页数:3
相关论文
共 50 条
  • [41] Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutieres Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations
    Kono, Michihiro
    Matsumoto, Fumihiro
    Suzuki, Yasuhiro
    Suganuma, Mutsumi
    Saitsu, Hirotomo
    Ito, Yasutomo
    Fujiwara, Sakuhei
    Moriwaki, Shinichi
    Matsumoto, Kazuhiko
    Matsumoto, Naomichi
    Tomita, Yasushi
    Sugiura, Kazumitsu
    Akiyama, Masashi
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2016, 136 (04) : 875 - 878
  • [42] Incidence of Aicardi-Goutieres syndrome and KCNT1-related epilepsy in Denmark
    Moller, Rikke S.
    Zhao, Liwei
    Shoaff, Jessica R.
    Duno, Morten
    Andersen, Brian Nauheimer
    Viet Nguyen
    Fang, Terry C.
    Kupelian, Varant
    Thoren, Robyn
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2022, 33
  • [43] Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
    Gillian I Rice
    Jacquelyn Bond
    Aruna Asipu
    Rebecca L Brunette
    Iain W Manfield
    Ian M Carr
    Jonathan C Fuller
    Richard M Jackson
    Teresa Lamb
    Tracy A Briggs
    Manir Ali
    Hannah Gornall
    Lydia R Couthard
    Alec Aeby
    Simon P Attard-Montalto
    Enrico Bertini
    Christine Bodemer
    Knut Brockmann
    Louise A Brueton
    Peter C Corry
    Isabelle Desguerre
    Elisa Fazzi
    Angels Garcia Cazorla
    Blanca Gener
    Ben C J Hamel
    Arvid Heiberg
    Matthew Hunter
    Marjo S van der Knaap
    Ram Kumar
    Lieven Lagae
    Pierre G Landrieu
    Charles M Lourenco
    Daphna Marom
    Michael F McDermott
    William van der Merwe
    Simona Orcesi
    Julie S Prendiville
    Magnhild Rasmussen
    Stavit A Shalev
    Doriette M Soler
    Marwan Shinawi
    Ronen Spiegel
    Tiong Y Tan
    Adeline Vanderver
    Emma L Wakeling
    Evangeline Wassmer
    Elizabeth Whittaker
    Pierre Lebon
    Daniel B Stetson
    David T Bonthron
    Nature Genetics, 2009, 41 : 829 - 832
  • [44] Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
    Rice, Gillian I.
    Forte, Gabriella M. A.
    Szynkiewicz, Marcin
    Chase, Diana S.
    Aeby, Alec
    Abdel-Hamid, Mohamed S.
    Ackroyd, Sam
    Allcock, Rebecca
    Bailey, Kathryn M.
    Balottin, Umberto
    Barnerias, Christine
    Bernard, Genevieve
    Bodemer, Christine
    Botella, Maria P.
    Cereda, Cristina
    Chandler, Kate E.
    Dabydeen, Lyvia
    Dale, Russell C.
    De Laet, Corinne
    De Goede, Christian G. E. L.
    del Toro, Mireia
    Effat, Laila
    Nunez Enamorado, Noemi
    Fazzi, Elisa
    Gener, Blanca
    Haldre, Madli
    Lin, Jean-Pierre S-M
    Livingston, John H.
    Lourenco, Charles Marques
    Marques, Wilson, Jr.
    Oades, Patrick
    Peterson, Paert
    Rasmussen, Magnhild
    Roubertie, Agathe
    Schmidt, Johanna Loewenstein
    Shalev, Stavit A.
    Simon, Rogelio
    Spiegel, Ronen
    Swoboda, Kathryn J.
    Temtamy, Samia A.
    Vassallo, Grace
    Vilain, Catheline N.
    Vogt, Julie
    Wermenbol, Vanessa
    Whitehouse, William P.
    Soler, Doriette
    Olivieri, Ivana
    Orcesi, Simona
    Aglan, Mona S.
    Zaki, Maha S.
    LANCET NEUROLOGY, 2013, 12 (12): : 1159 - 1169
  • [45] Using crystallography and biophysics to understand mutations in the Aicardi-Goutieres Syndrome Ribonuclease H2 enzyme
    Reijns, Martin
    Bubeck, D.
    Gibson, L. C. D.
    Graham, S. C.
    Leitch, A.
    Baillie, G. S.
    Jones, E. Y.
    Jackson, A. P.
    JOURNAL OF MEDICAL GENETICS, 2011, 48 : S30 - S30
  • [46] Aicardi-Goutieres syndrome due to a paternal mosaic IFIH1 mutation
    Tuengler, Victoria
    Doebler-Neumann, Marion
    Salandin, Michaela
    Kaufmann, Peter
    Wolf, Christine
    Lucas, Nadja
    Harmuth, Florian
    Reichbauer, Jennifer
    Kraegeloh-Mann, Ingeborg
    Schuele, Rebecca
    Lee-Kirsch, Min Ae
    NEUROLOGY-GENETICS, 2020, 6 (01)
  • [47] Neuropathological Findings in a Case of Aicardi-Goutieres Syndrome with IFIH-1 Mutation
    Gilani, Ahmed
    Capocelli, Kelley
    Wartchow, Eric
    Kleinschmidt-DeMasters, Bette
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2018, 77 (06): : 530 - 531
  • [48] Pons Calcifications and Striatal Necrosis in ADAR1 Aicardi-Goutieres Syndrome
    Mendes Pinto, Catarina
    Freixo, Joao
    Brandao, Ana Filipa
    Magalhaes, Marina
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2021, 8 (07): : 1159 - 1161
  • [49] Generation of three induced pluripotent cell lines (iPSCs) from an Aicardi-Goutieres syndrome (AGS) patient harboring a deletion in the genomic locus of the sterile alpha motif and HD domain containing protein 1 (SAMHD1)
    Fuchs, Nina V.
    Schieck, Maximilian
    Neuenkirch, Michaela
    Tondera, Christiane
    Schmitz, Heike
    Wendeburg, Lena
    Steinemann, Doris
    Elpers, Christiane
    Rutsch, Frank
    Koenig, Renate
    STEM CELL RESEARCH, 2020, 43
  • [50] Molecular characterization of a novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome
    Samaan, S.
    Valence, S.
    Renaldo, F.
    Maalouf, C.
    Dorboz, I.
    Boussaid, K.
    Elmaleh, M.
    Rice, G.
    Boespflug-Tanguy, O.
    Crow, Y.
    Rodriguez, D.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 249 - 249