Identification of two novel pathogenic variants in the PLOD2 gene in a case of Bruck syndrome type 2

被引：0
|
作者：
Merkuryeva, Elena [1 ]
Markova, Tatiana [1 ]
Ryzhkova, Oksana [1 ]
Buklemishev, Yuri [2 ]
Kenis, Vladimir [3 ]
机构：
[1] Res Ctr Med Genet, Moscow, Russia
[2] NN Priorov Natl Med Res Ctr Traumatol & Orthopaed, Moscow, Russia
[3] H Turner Natl Med Res Ctr Childrens Orthoped & Tr, St Petersburg, Russia
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷
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：
EP06.033
引用
收藏
页码：991 / 991
页数：1
相关论文
共 50 条
  • [1] Novel Mutations in PLOD2 Cause Rare Bruck Syndrome
    Fang Lv
    Xiaojie Xu
    Yuwen Song
    Lujiao Li
    Jian Asan
    Huanming Wang
    Ou Yang
    Yan Wang
    Weibo Jiang
    Xiaoping Xia
    Mei Xing
    Calcified Tissue International, 2018, 102 : 296 - 309
  • [2] Novel Mutations in PLOD2 Cause Rare Bruck Syndrome
    Lv, Fang
    Xu, Xiaojie
    Song, Yuwen
    Li, Lujiao
    Asan
    Wang, Jian
    Yang, Huanming
    Wang, Ou
    Jiang, Yan
    Xia, Weibo
    Xing, Xiaoping
    Li, Mei
    CALCIFIED TISSUE INTERNATIONAL, 2018, 102 (03) : 296 - 309
  • [3] A Plod2 mutant mouse model of Bruck syndrome
    Kot, Alexander
    Duran, Ivan
    Martin, Jorge H.
    Wachtell, Davis
    Chun, Cora
    Hudson, David M.
    Weis, MaryAnn
    Eyre, David R.
    Zieba, Jennifer
    Krakow, Deborah
    JOURNAL OF BONE AND MINERAL RESEARCH, 2023, 38 : 280 - 281
  • [4] Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in PLOD2 Causing Bruck Syndrome Type 2
    Zhang, Jing
    Hu, Huaying
    Mu, Weihong
    Yu, Mei
    Chen, Wenqi
    Mi, Dongqing
    Yang, Kai
    Guo, Qing
    FRONTIERS IN GENETICS, 2021, 12
  • [5] Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum
    Otaify, Ghada A.
    Abdel-Hamid, Mohamed S.
    Hassib, Nehal F.
    Elhossini, Rasha M.
    Abdel-Ghafar, Sherif F.
    Aglan, Mona S.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (06) : 1815 - 1825
  • [6] Bruck Syndrome Variant Lacking Congenital Contractures Due To Novel Compound Heterozygous PLOD2 Mutations
    Mumm, Steven
    Gottesman, Gary S.
    Campeau, Philippe M.
    Nenninger, Angela
    Huskey, Margaret
    Bijanki, Vinieth N.
    Veis, Deborah J.
    Barnes, Aileen
    Marini, Joan C.
    Wenkert, Deborah
    Mcalister, William H.
    Whyte, Michael P.
    JOURNAL OF BONE AND MINERAL RESEARCH, 2018, 33 : 182 - 182
  • [7] Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation
    Mumm, Steven
    Gottesman, Gary S.
    Wenkert, Deborah
    Campeau, Philippe M.
    Nenninger, Angela
    Huskey, Margaret
    Bijanki, Vinieth N.
    Veis, Deborah J.
    Barnes, Aileen M.
    Marini, Joan C.
    Stolina, Marina
    Zhang, Fan
    McAlister, William H.
    Whyte, Michael P.
    BONE, 2020, 130
  • [8] Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients
    Zhou, Peiran
    Liu, Yi
    Lv, Fang
    Nie, Min
    Jiang, Yan
    Wang, Ou
    Xia, Weibo
    Xing, Xiaoping
    Li, Mei
    PLOS ONE, 2014, 9 (09):
  • [9] Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
    Leal, Gabriela Ferraz
    Nishimura, Gen
    Voss, Ulrika
    Bertola, Debora Romeo
    Astrom, Eva
    Svensson, Johan
    Yamamoto, Guilherme Lopes
    Hammarsjo, Anna
    Horemuzova, Eva
    Papadiogannakis, Nikos
    Iwarsson, Erik
    Grigelioniene, Giedre
    Tham, Emma
    JOURNAL OF BONE AND MINERAL RESEARCH, 2018, 33 (04) : 753 - 760
  • [10] Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant
    Wang, Ruo-li
    Ruan, Dan-dan
    Hu, Ya-nan
    Gan, Yu-mian
    Lin, Xin-fu
    Fang, Zhu-ting
    Liao, Li-sheng
    Tang, Fa-qiang
    He, Wu-bing
    Luo, Jie-wei
    FRONTIERS IN PEDIATRICS, 2022, 10
12345