Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis

被引：0
|
作者：
Jignesh K. Patel
Andrew M. Rosen
Adam Chamberlin
Benjamin Feldmann
Christian Antolik
Heather Zimmermann
Tami Johnston
Arvind Narayana
机构：
[1] Smidt Cedars-Sinai Heart Institute,Cardiac Amyloid Program
[2] Akcea Therapeutics,undefined
[3] Ambry Genetics,undefined
[4] Smidt Cedars-Sinai Heart Institute,undefined
来源：
Neurology and Therapy | 2022年 / 11卷
关键词：
Hereditary transthyretin amyloidosis; Likely pathogenic variant; Reclassification, variant of uncertain significance; Variant of unknown significance;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：1595 / 1607
页数：12
相关论文
共 50 条
  • [41] A case report of osteoarthritis associated with hereditary transthyretin amyloidosis ATTRV30M
    Anan, Intissar
    Bang, Joakim
    Lundgren, Hans-Erik
    Wixner, Jonas
    Westermark, Per
    AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2019, 26 : 29 - 30
  • [42] Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis associated with Glu89Gln Mutation
    Nakov, Radislav
    Sarafov, Stayko
    Nakov, Ventsislav
    Gospodinova, Mariana
    Todorov, Tihomir
    Kirov, Andrey
    Todorova, Albena
    Tournev, Ivailo
    JOURNAL OF GASTROINTESTINAL AND LIVER DISEASES, 2019, 28 (04) : 421 - 426
  • [43] Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis
    De Lillo, Antonella
    Pathak, Gita A.
    De Angelis, Flavio
    Di Girolamo, Marco
    Luigetti, Marco
    Sabatelli, Mario
    Perfetto, Federico
    Frusconi, Sabrina
    Manfellotto, Dario
    Fuciarelli, Maria
    Polimanti, Renato
    CLINICAL EPIGENETICS, 2020, 12 (01)
  • [44] Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population
    Bourfiss, Mimount
    van Vugt, Marion
    Alasiri, Abdulrahman, I
    Ruijsink, Bram
    van Setten, Jessica
    Schmidt, A. Floriaan
    Dooijes, Dennis
    Puyol-Anton, Esther
    Velthuis, Birgitta K.
    van Tintelen, J. Peter
    te Riele, Anneline S. J. M.
    Baas, Annette F.
    Asselbergs, Folkert W.
    CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2022, 15 (06): : 530 - 541
  • [45] Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhage
    Shen, Junhui
    Yu, Hao
    Lin, Jijian
    Zhang, Li
    Pan, Xiaohong
    Chen, Zhiqing
    FRONTIERS IN GENETICS, 2022, 13
  • [46] VITREOUS AMYLOIDOSIS ASSOCIATED WITH HOMOZYGOSITY FOR THE TRANSTHYRETIN METHIONINE-30 GENE
    SANDGREN, O
    HOLMGREN, G
    LUNDGREN, E
    ARCHIVES OF OPHTHALMOLOGY, 1990, 108 (11) : 1584 - 1586
  • [47] GLOMERULOPATHY ASSOCIATED WITH PREDOMINANT FIBRONECTIN DEPOSITS - A NEWLY RECOGNIZED HEREDITARY-DISEASE
    STROM, EH
    BANFI, G
    KRAPF, R
    ABT, AB
    MAZZUCCO, G
    MONGA, G
    GLOOR, F
    NEUWEILER, J
    RIESS, R
    STOSIEK, P
    HEBERT, LA
    SEDMAK, DD
    GUDAT, F
    MIHATSCH, MJ
    KIDNEY INTERNATIONAL, 1995, 48 (01) : 163 - 170
  • [48] Transthyretin gene: transcription pattern in livers and heart from transplanted patients with hereditary Amyloidosis.
    Salvi, F
    Manzati, E
    Ando, Y
    Ferlini, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A379 - A379
  • [49] Subclinical retinal angiopathy associated with hereditary transthyretin amyloidosis - assessed with optical coherence tomography angiography
    Marques, Joao Heitor
    Coelho, Joao
    Malheiro, Jorge
    Pessoa, Bernardete
    Beirao, Joao Melo
    AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2021, 28 (01): : 66 - 71
  • [50] Clinical 3-D Gait Assessment of Patients With Polyneuropathy Associated With Hereditary Transthyretin Amyloidosis
    Vilas-Boas, Maria do Carmo
    Rocha, Ana Patricia
    Cardoso, Marcio Neves
    Fernandes, Jose Maria
    Coelho, Teresa
    Cunha, Joao Paulo Silva
    FRONTIERS IN NEUROLOGY, 2020, 11
12345