Novel homozygous variant of unknown significance in patient with spinocerebellar ataxia

被引:0
|
作者
Leonova, Valeria [1 ]
Chernevskiy, Denis [1 ]
Antonenko, Aleksey [1 ]
Revkova, Maria [1 ]
Rodionova, Daria [1 ]
Sokolova, Natalia [1 ]
Ulanova, Polina [1 ]
Zolotopup, Anna [1 ]
Bondarchuk, Elizaveta [2 ]
Doroshchuk, Natalia [1 ]
Krinitsina, Anastasia [1 ]
Groznova, Olga [2 ,3 ]
Belenikin, Maxim [1 ,4 ]
机构
[1] Evogen LLC, Moscow, Russia
[2] NI Pirogov Russian Natl Res Med Univ, Acad Yu E Veltishchev Res Clin Inst Pediat, Minist Hlth Russian Fed, Moscow, Russia
[3] Charity Fdn Med & Social Genet Aid Projects Life, Moscow, Russia
[4] Lomonosov Moscow State Univ, Moscow, Russia
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
EP11.024
引用
收藏
页码:224 / 224
页数:1
相关论文
共 50 条
  • [1] Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene
    Boros, Fanni Annamaria
    Szpisjak, Laszlo
    Bozo, Renata
    Kelemen, Evelyn
    Zadori, Denes
    Salamon, Andras
    Danis, Judit
    Kalmar, Tibor
    Maroti, Zoltan
    Molnar, Maria Judit
    Klivenyi, Peter
    Szell, Marta
    Adam, Eva
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (03)
  • [2] Spinocerebellar Ataxia 48 Patient With a Novel De Novo Variant of STUB1
    Choi, Soyoun
    Park, Soo Ryun
    Jang, Ja-Hyun
    Ahn, Jong Hyeon
    JOURNAL OF CLINICAL NEUROLOGY, 2022, 18 (06): : 714 - 716
  • [3] Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline
    Siddharth Nath
    Nicholas S. Caron
    Linda May
    Oxana B. Gluscencova
    Jill Kolesar
    Lauren Brady
    Brett A. Kaufman
    Gabrielle L. Boulianne
    Amadeo R. Rodriguez
    Mark A. Tarnopolsky
    Ray Truant
    Human Genome Variation, 9
  • [4] Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline
    Nath, Siddharth
    Caron, Nicholas S.
    May, Linda
    Gluscencova, Oxana B.
    Kolesar, Jill
    Brady, Lauren
    Kaufman, Brett A.
    Boulianne, Gabrielle L.
    Rodriguez, Amadeo R.
    Tarnopolsky, Mark A.
    Truant, Ray
    HUMAN GENOME VARIATION, 2022, 9 (01)
  • [5] Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in the PMPCA Gene causing Autosomal Recessive Spinocerebellar Ataxia
    Bagabir, Hala Abubaker
    Abdulkareem, Angham Abdulrhman
    Muthaffar, Osama Yousef
    Shirah, Bader H.
    Naseer, Muhammad Imran
    PAKISTAN JOURNAL OF MEDICAL SCIENCES, 2024, 40 (10) : 2243 - 2250
  • [6] Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy
    Chen, Tugche S.
    Sheri, Narin
    Ehmann, David S.
    Benson, Matthew D.
    OPHTHALMIC GENETICS, 2024, 45 (04) : 409 - 412
  • [7] Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance
    Ghorbani, Fatemeh
    Alimohamed, Mohamed Z.
    Vilacha, Juliana F.
    Van Dijk, Krista K.
    De Boer-Bergsma, Jelkje
    Fokkens, Michiel R.
    Lemmink, Henny
    Sijmons, Rolf H.
    Sikkema-Raddatz, Birgit
    Groves, Matthew R.
    Verschuuren-Bemelmans, Corien C.
    Verbeek, Dineke S.
    Van Diemen, Cleo C.
    Westers, Helga
    FRONTIERS IN GENETICS, 2022, 13
  • [8] Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant
    Spagnolo, Francesca
    Monfrini, Edoardo
    Pinto, Vincenza
    Di Maggio, Giovanni
    De Marco, Paolo
    Comi, Giacomo P.
    Rini, Augusto
    Di Fonzo, Alessio
    CLINICAL PARKINSONISM & RELATED DISORDERS, 2023, 9
  • [9] Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA)
    Velasco, Harvy
    Ramirez-Montano, Diana
    FRONTIERS IN GENETICS, 2018, 9
  • [10] Homozygous spinocerebellar ataxia type 3 in China: a case report
    Chen, Yuchao
    Li, Dan
    Wei, Minger
    Zhou, Menglu
    Zhang, Linan
    Yu, Jiaoyang
    Qiu, Mengqiu
    Jin, Yi
    Lu, Xiaodong
    JOURNAL OF INTERNATIONAL MEDICAL RESEARCH, 2021, 49 (06)