Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

被引：0
|
作者：
Alessia Nasca
Teresa Rizza
Mara Doimo
Andrea Legati
Andrea Ciolfi
Daria Diodato
Cristina Calderan
Gianfranco Carrara
Eleonora Lamantea
Chiara Aiello
Michela Di Nottia
Marcello Niceta
Costanza Lamperti
Anna Ardissone
Stefania Bianchi-Marzoli
Giancarlo Iarossi
Enrico Bertini
Isabella Moroni
Marco Tartaglia
Leonardo Salviati
Rosalba Carrozzo
Daniele Ghezzi
机构：
[1] Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular Neurogenetics
[2] Bambino Gesù Children’s Hospital,Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine
[3] IRCCS,Department of Woman and Child Health, Clinical Genetics Unit
[4] University of Padova,Istituto di Ricerca Pediatria, IRP
[5] Città della Speranza,Division of Genetics and Rare Diseases, Molecular Genetics and Genomics Unit
[6] Bambino Gesù Children’s Hospital,Unit of Child Neurology
[7] IRCCS,Department of Ophthalmology, Neuro
[8] Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,ophthalmology Unit
[9] IRCCS Istituto Auxologico Italiano,Department of Ophthalmology
[10] Bambino Gesù IRCSS Children’s Hospital,undefined
来源：
Orphanet Journal of Rare Diseases | / 12卷
关键词：
OPA1; Optic atrophy; Mitochondrial disorder; Encephalopathy; Recessive trait; Targeted resequencing; WES;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [1] Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
    Nasca, Alessia
    Rizza, Teresa
    Doimo, Mara
    Legati, Andrea
    Ciolfi, Andrea
    Diodato, Daria
    Calderan, Cristina
    Carrara, Gianfranco
    Lamantea, Eleonora
    Aiello, Chiara
    Di Nottia, Michela
    Niceta, Marcello
    Lamperti, Costanza
    Ardissone, Anna
    Bianchi-Marzoli, Stefania
    Iarossi, Giancarlo
    Bertini, Enrico
    Moroni, Isabella
    Tartaglia, Marco
    Salviati, Leonardo
    Carrozzo, Rosalba
    Ghezzi, Daniele
    ORPHANET JOURNAL OF RARE DISEASES, 2017, 12 : 1 - 10
  • [2] Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
    Toomes, C
    Marchbank, NJ
    Mackey, DA
    Craig, JE
    Newbury-Ecob, RA
    Bennett, CP
    Vize, CJ
    Desai, SP
    Black, GCM
    Patel, N
    Teimory, M
    Markham, AF
    Inglehearn, CF
    Churchill, AJ
    HUMAN MOLECULAR GENETICS, 2001, 10 (13) : 1369 - 1378
  • [3] Dominant (Kjer's) optic atrophy associated with mutations in OPA1 gene
    Kelifova, S.
    Honzik, T.
    Tesarova, M.
    Kousal, B.
    Liskova, P.
    Havrankova, P.
    Kolarova, H.
    CESKA A SLOVENSKA NEUROLOGIE A NEUROCHIRURGIE, 2020, 83 (01) : 33 - 42
  • [4] OPA1 mutations and clinical phenotype in Japanese patients with dominant optic atrophy
    Hewitt, AW
    Fitzgerald, LM
    McKay, J
    Mulhall, L
    Mackey, DA
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2004, 45 : U943 - U943
  • [5] OPA1 Mutations Associated with Dominant Optic Atrophy Influence Optic Nerve Head Size
    Barboni, Piero
    Carbonelli, Michele
    Savini, Giacomo
    Foscarini, Beatrice
    Parisi, Vincenzo
    Valentino, Maria L.
    Carta, Arturo
    De Negri, Annamaria
    Sadun, Federico
    Zeviani, Massimo
    Sadun, Alfredo A.
    Schimpf, Simone
    Wissinger, Bernd
    Carelli, Valerio
    OPHTHALMOLOGY, 2010, 117 (08) : 1547 - 1553
  • [6] OPA1 mutations in Finnish families with dominant optic atrophy (DOA)
    Puomila, A
    Paananen, R
    Mäntyjärvi, M
    Sankila, EM
    Somer, M
    Savontaus, ML
    Nikoskelainen, E
    Huoponen, K
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 580 - 580
  • [7] Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy
    Kane, Mariame Selma
    Alban, Jennifer
    Desquiret-Dumas, Valerie
    Gueguen, Naig
    Ishak, Layal
    Ferre, Marc
    Amati-Bonneau, Patrizia
    Procaccio, Vincent
    Bonneau, Dominique
    Lenaers, Guy
    Reynier, Pascal
    Chevrollier, Arnaud
    JOURNAL OF CELLULAR AND MOLECULAR MEDICINE, 2017, 21 (10) : 2284 - 2297
  • [8] Novel Mutations of the OPA1 Gene in Chinese Dominant Optic Atrophy
    Yen, May-Yung
    Wang, An-Guor
    Lin, Yen-Ching
    Fann, Ming-Ji
    Hsiao, Kwang-Jen
    OPHTHALMOLOGY, 2010, 117 (02) : 392 - 396
  • [9] OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion
    Zanna, Claudia
    Ghelli, Anna
    Porcelli, Anna Maria
    Karbowski, Mariusz
    Youle, Richard J.
    Schimpf, Simone
    Wissinger, Bernd
    Pinti, Marcello
    Cossarizza, Andrea
    Vidoni, Sara
    Valentino, Maria Lucia
    Rugolo, Michela
    Carelli, Valerio
    BRAIN, 2008, 131 : 352 - 367
  • [10] Autosomal dominant optic atrophy:: Penetrance and expressivity in patients with OPA1 mutations
    Cohn, Amn C.
    Toomes, Carmel
    Potter, Catherine
    Towns, Katherine V.
    Hewitt, Alex W.
    Inglehearn, Chris F.
    Craig, Jamie E.
    Mackey, David A.
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 2007, 143 (04) : 656 - 662
12345