A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

被引:0
|
作者
Tin Aung
Mineo Ozaki
Takanori Mizoguchi
R Rand Allingham
Zheng Li
Aravind Haripriya
Satoko Nakano
Steffen Uebe
Jeffrey M Harder
Anita S Y Chan
Mei Chin Lee
Kathryn P Burdon
Yury S Astakhov
Khaled K Abu-Amero
Juan C Zenteno
Yildirim Nilgün
Tomasz Zarnowski
Mohammad Pakravan
Leen Abu Safieh
Liyun Jia
Ya Xing Wang
Susan Williams
Daniela Paoli
Patricio G Schlottmann
Lulin Huang
Kar Seng Sim
Jia Nee Foo
Masakazu Nakano
Yoko Ikeda
Rajesh S Kumar
Morio Ueno
Shin-ichi Manabe
Ken Hayashi
Shigeyasu Kazama
Ryuichi Ideta
Yosai Mori
Kazunori Miyata
Kazuhisa Sugiyama
Tomomi Higashide
Etsuo Chihara
Kenji Inoue
Satoshi Ishiko
Akitoshi Yoshida
Masahide Yanagi
Yoshiaki Kiuchi
Makoto Aihara
Tsutomu Ohashi
Toshiya Sakurai
Takako Sugimoto
Hideki Chuman
机构
[1] Singapore Eye Research Institute,Department of Ophthalmology
[2] Singapore National Eye Center,Department of Ophthalmology
[3] Yong Loo Lin School of Medicine,Department of Ophthalmology
[4] National University of Singapore,Department of Ophthalmology
[5] Division of Human Genetics,Department of Ophthalmology
[6] Duke University–National University of Singapore Graduate Medical School,Department of Ophthalmology
[7] Ozaki Eye Hospital,Department of Ophthalmology
[8] Hayashi Eye Hospital,Department of Genetics
[9] Mizoguchi Eye Hospital,Department of Biochemistry
[10] Duke University Eye Center,Department of Ophthalmology
[11] Intraocular Lens and Cataract Clinic,Department of Diagnostics and Microsurgery of Glaucoma
[12] Aravind Eye Hospital,Department of Ophthalmology
[13] Oita University Faculty of Medicine,Division of Ophthalmology, Department of Neurosciences
[14] Institute of Human Genetics,Department of Ophthalmology
[15] Friedrich Alexander Universität Erlangen-Nürnberg,Department of Genomic Medical Sciences
[16] Howard Hughes Medical Institute,Department of Ophthalmology
[17] Jackson Laboratory,Department of Ophthalmology
[18] Flinders University,Department of Ophthalmology and Visual Science
[19] Menzies Institute for Medical Research,Department of Medicine and Engineering Combined Research Institute
[20] University of Tasmania,Department of Ophthalmology
[21] First Pavlov State Medical University of St. Petersburg,Department of Ophthalmology and Visual Science
[22] College of Medicine,Department of Ophthalmology and Visual Sciences
[23] King Saud University,Department of Ophthalmology and Visual Sciences
[24] College of Medicine,Department of Medicine
[25] University of Florida,Department of Cellular Biology and Anatomy
[26] Institute of Ophthalmology Conde de Valenciana,Division of Ophthalmology
[27] Faculty of Medicine,Department of Ophthalmology and Westmead Millennium Institute
[28] Universidad Nacional Autónoma de México,Department of Genetics
[29] Eskisehir Osmangazi University,Department of Ophthalmology
[30] Medical University,Department of Ophthalmology
[31] Ophthalmic Research Center,Department of Ophthalmology
[32] Labbafinejad Medical Center,Department of Genomics
[33] Shahid Beheshti University of Medical Sciences,Division of Medical Genetics
[34] King Khaled Eye Specialist Hospital,Department of Biomedicine
[35] Beijing Ophthalmology and Visual Sciences Key Laboratory,Department of Ophthalmology
[36] Beijing Tongren Eye Centre,Department of Ophthalmology
[37] Beijing Tongren Hospital,Department of Ophthalmology
[38] Capital Medical University,Department of Biology and Genetics
[39] Beijing Institute of Ophthalmology,Department of Ophthalmology
[40] Beijing Tongren Hospital,Channing Division of Network Medicine
[41] Capital University of Medical Science,Department of Ophthalmology
[42] University of the Witwatersrand,Department of Neuroscience and Pharmacology
[43] Monfalcone Hospital,Department of Ophthalmology
[44] Organización Médica de Investigación,Department of Ophthalmology and Visual Sciences
[45] Sichuan Provincial Key Laboratory for Human Disease Gene Study,Department of Ophthalmology
[46] Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital,Division of Medical Sciences
[47] School of Medicine,Department of Clinical Pharmacology
[48] University of Electronic Science and Technology of China,Department of Surgery
[49] Sichuan Translational Medicine Hospital,Department of Ophthalmology
[50] Chinese Academy of Sciences,undefined
来源
Nature Genetics | 2015年 / 47卷
关键词
D O I
暂无
中图分类号
学科分类号
摘要
Tin Aung, Chiea-Chuen Khor and colleagues report the results of a genome-wide association study of exfoliation syndrome. They replicate a known association at LOXL1 and identify a previously unreported association at CACNA1A.
引用
收藏
页码:387 / 392
页数:5
相关论文
共 50 条
  • [41] Novel CACNA1A mutation(s) associated with slow saccade velocities
    Kipfer, Stefan
    Jung, Simon
    Lemke, Johannes R.
    Kipfer-Kauer, Anna
    Howell, Jeremy P.
    Kaelin-Lang, Alain
    Nyffeler, Thomas
    Gutbrod, Klemens
    Abicht, Angela
    Mueri, Rene M.
    JOURNAL OF NEUROLOGY, 2013, 260 (12) : 3010 - 3014
  • [42] An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A
    Epperson, Madison V.
    Haws, Michael E.
    Standridge, Shannon M.
    Gilbert, Donald L.
    JOURNAL OF CHILD NEUROLOGY, 2018, 33 (04) : 286 - 289
  • [43] Novel de novo heterozygous CACNA1A gene variant in generalised dystonia: a case report
    Alshareet, Mohammed
    Alakkas, Aljoharah
    Alsinaidi, Omar A.
    Bawazeer, Shahad
    Peer-Zada, Abdul Ali
    BMJ NEUROLOGY OPEN, 2024, 6 (01)
  • [44] Early-Onset Cerebellar Atrophy Associated With Mutation in the CACNA1A Gene
    Naik, Swati
    Pohl, Keith
    Malik, Mohsin
    Siddiqui, Ata
    Josifova, Dragana
    PEDIATRIC NEUROLOGY, 2011, 45 (05) : 328 - 330
  • [45] Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De Novo CACNA1A Variant
    Byers, Heather M.
    Beatty, Christopher W.
    Hahn, Si Houn
    Gospe, Sidney M., Jr.
    PEDIATRIC NEUROLOGY, 2016, 60 : 79 - 82
  • [46] Novel CACNA1A Splice Site Variant Associated with Cerebellar Ataxia and Mild Cognitive Impairment; Case Report of Czech Family
    Afifi, A.
    Nevrly, M.
    Musova, Z.
    Hedvicakova, P.
    Mensikova, K.
    Kanovsky, P.
    MOVEMENT DISORDERS, 2023, 38 : S318 - S319
  • [47] CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications
    Li, Xue-Lian
    Li, Zong-Jun
    Liang, Xiao-Yu
    Liu, De-Tian
    Jiang, Mi
    Gao, Liang-Di
    Li, Huan
    Tang, Xue-Qing
    Shi, Yi-Wu
    Li, Bing-Mei
    He, Na
    Li, Bin
    Bian, Wen-Jun
    Yi, Yong-Hong
    Cheng, Chuan-Fang
    Wang, Jie
    FRONTIERS IN MOLECULAR NEUROSCIENCE, 2022, 15
  • [48] A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia
    Ogawa, Yuka
    Nakamura, Katsuya
    Ezawa, Naoki
    Yamaguchi, Tomomi
    Yoshinaga, Tsuneaki
    Miyazak, Daigo
    Kosho, Tomoki
    Sekijima, Yoshiki
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2019, 399 : 214 - 216
  • [49] Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2
    Petrovicova, Andrea
    Brozman, Miroslav
    Kurca, Egon
    Gobo, Tibor
    Dluha, Jana
    Kalmarova, Klaudia
    Nosal, Vladimir
    Hikkelova, Martina
    Krajciova, Adriana
    Burjanivova, Tatiana
    Sivak, Stefan
    BIOMEDICAL PAPERS-OLOMOUC, 2017, 161 (01): : 107 - 110
  • [50] A missense variant in CACNA1A gene causing familial motor and sensory polyneuropathy with pyramidal signs
    Larom, G.
    Peleg, A.
    Sagi-Dain, L.
    Harari-Shaham, A.
    Sade, O.
    Adir, V.
    Golan, D.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 445 - 445