Case Report: A Novel Pathogenic Splicing Variant in COL9A3 Causing Erosive Arthropathy in Multiple Epiphyseal Dysplasia

被引：0
|
作者：
Alnuaimi, Bashayer [1 ]
Valancy, Miranda [2 ]
Sbrocchi, Annie [3 ]
Campeau, Philippe [3 ]
Campillo, Sarah [4 ]
Lahiry, Piya [5 ]
机构：
[1] McGill, Montreal, PQ, Canada
[2] Hosp St Justine, Montreal, PQ, Canada
[3] McGill Univ, Montreal, PQ, Canada
[4] McGill Univ, Hlth Ctr, Montreal, PQ, Canada
[5] Hosp Sick Children, Toronto, ON, Canada
来源：
JOURNAL OF RHEUMATOLOGY | 2024年 / 51卷
关键词：
MUTATION;
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
37
引用
收藏
页码：60 / 61
页数：2
相关论文
共 50 条
  • [31] A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report
    Nirmala Dushyanthi Sirisena
    U. M. Jayami Eshana Samaranayake
    Osorio Lopes Abath Neto
    A. Reghan Foley
    B. A. P. Sajeewani Pathirana
    Nilaksha Neththikumara
    C. Sampath Paththinige
    Pyara Rathnayake
    Sandra Donkervoort
    Carsten G. Bönnemann
    Vajira H. W. Dissanayake
    BMC Neurology, 21
  • [32] Correction: A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): a case report
    Jamal Manoochehri
    Seyed Alireza Dastgheib
    Hossein Jafari Khamirani
    Maryam Mollaie
    Zahra Sharifi
    Sina Zoghi
    Seyed Mohammad Bagher Tabei
    Sanaz Mohammadi
    Fatemeh Dehghanian
    Zahra Farbod
    Mehdi Dianatpour
    Human Genome Variation, 8
  • [33] A novel heterozygous pathogenic variant in the HMGA2 gene causing Silver-Russell Syndrome, a case-report
    Fisch-Shvalb, Naama
    Shefer-Averbuch, Noa
    HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 526 - 526
  • [34] A Novel Heterozygous Pathogenic Variant in PORCN Gene Causing Focal Dermal Hypoplasia with Short Stature: Case Report and Literature Review
    Wu, Di
    Hu, Xuyun
    Li, Xiaoqiao
    Wei, Liya
    Su, Chang
    Chen, Jiajia
    Qin, Miao
    Gong, Chunxiu
    Shen, Yiping
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 459 - 459
  • [35] Novel pathogenic variant combination in LPL causing familial chylomicronemia syndrome in an Asian family and experimental validation in vitro: a case report
    Shi, Huiping
    Wang, Zhaoyue
    TRANSLATIONAL PEDIATRICS, 2022, 11 (10) : 1717 - +
  • [36] A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report
    Li, Maohua
    Huang, Jiandi
    Liu, Min
    Duan, Chunmei
    Guo, Hong
    Chen, Xiaoyan
    Wang, Yue
    FRONTIERS IN NEUROLOGY, 2023, 14
  • [37] Case report: Characterization of a rare pathogenic variant associated with loss of COL3A1 expression in vascular Ehlers Danlos syndrome
    Manhas, Janvie
    Lohani, Lov Raj
    Seethy, Ashikh
    Kumar, Uma
    Gamanagatti, Shivanand
    Sen, Sudip
    FRONTIERS IN CARDIOVASCULAR MEDICINE, 2022, 9
  • [38] A founder COL4A3 pathogenic variant resulting in Alport syndrome and thin basement membrane disease: a case report series
    Tkemaladze, Tinatin
    Bregvadze, Kakha
    Kvaratskhelia, Eka
    Abzianidze, Elene
    Davitaia, Tinatin
    FRONTIERS IN MEDICINE, 2023, 10
  • [39] A Long Contiguous Stretch of Homozygosity Disclosed a Novel STAG3 Biallelic Pathogenic Variant Causing Primary Ovarian Insufficiency: A Case Report and Review of the Literature
    Mellone, Simona
    Zavattaro, Marco
    Vurchio, Denise
    Ronzani, Sara
    Caputo, Marina
    Leone, Ilaria
    Prodam, Flavia
    Giordano, Mara
    GENES, 2021, 12 (11)
  • [40] Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report
    Zhou, Taifeng
    Wang, Yongqian
    Zhou, Hang
    Liao, Zhiheng
    Gao, Bo
    Su, Deying
    Zheng, Shuhui
    Xu, Caixia
    Su, Peiqiang
    BMC MEDICAL GENETICS, 2018, 19
12345