Correction: A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): a case report

被引:0
|
作者
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
机构
[1] Islamic Azad University,Department of Genetics, Marvdasht Branch
[2] Shiraz University of Medical Sciences,Comprehensive Medical Genetic Center
[3] Shiraz University of Medical Sciences,Department of Medical Genetics
[4] Shiraz University of Medical Sciences,Student Research Committee
[5] Shiraz University of Medical Sciences,Maternal
[6] Shiraz University of Medical Sciences,Fetal Medicine Research Center
来源
关键词
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 19 条
  • [1] A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): a case report (vol 8, 33, 2021)
    Manoochehri, Jamal
    Dastgheib, Seyed Alireza
    Khamirani, Hossein Jafari
    Mollaie, Maryam
    Sharifi, Zahra
    Zoghi, Sina
    Tabei, Seyed Mohammad Bagher
    Mohammadi, Sanaz
    Dehghanian, Fatemeh
    Farbod, Zahra
    Dianatpour, Mehdi
    HUMAN GENOME VARIATION, 2021, 8 (01)
  • [2] Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, ST3GAL5 Gene in a Saudi Family Causing Salt and Pepper Syndrome
    Abdulkareem, Angham Abdulrhman
    Shirah, Bader H.
    Naseer, Muhammad Imran
    GENES, 2023, 14 (02)
  • [3] Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene
    Mu, Dan
    Yang, Yanting
    Liu, Yao
    Shen, Ying
    Liu, Hongqian
    Wang, Jing
    ORPHANET JOURNAL OF RARE DISEASES, 2024, 19 (01)
  • [4] A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation
    Boccuto, Luigi
    Aoki, Kazuhiro
    Flanagan-Steet, Heather
    Chen, Chin-Fu
    Fan, Xiang
    Bartel, Frank
    Petukh, Marharyta
    Pittman, Ayla
    Saul, Robert
    Chaubey, Alka
    Alexov, Emil
    Tiemeyer, Michael
    Steet, Richard
    Schwartz, Charles E.
    HUMAN MOLECULAR GENETICS, 2014, 23 (02) : 418 - 433
  • [5] A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report
    Sobrinho, Livia Maria Ferreira
    Silva, Thiago Oliveira
    Refosco, Lilia Farret
    Poloni, Soraia
    Poswar, Fabiano Oliveira
    de Souza, Carolina Fischinger Moura
    Sperb-Ludwig, Fernanda
    Schwartz, Ida Vanessa Doederlein
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2024, 41
  • [6] 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
  • [7] 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 - +
  • [8] Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation
    Indellicato, Rossella
    Parini, Rossella
    Domenighini, Ruben
    Malagolini, Nadia
    Iascone, Maria
    Gasperini, Serena
    Masera, Nicoletta
    dall'Olio, Fabio
    Trinchera, Marco
    GLYCOBIOLOGY, 2019, 29 (03) : 229 - 241
  • [9] Case Report: A Novel Pathogenic Splicing Variant in COL9A3 Causing Erosive Arthropathy in Multiple Epiphyseal Dysplasia
    Alnuaimi, Bashayer
    Valancy, Miranda
    Sbrocchi, Annie
    Campeau, Philippe
    Campillo, Sarah
    Lahiry, Piya
    JOURNAL OF RHEUMATOLOGY, 2024, 51 : 60 - 61
  • [10] A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report
    Kumagai, Naonori
    Matsumoto, Yuji
    Kondoh, Tomomi
    Ikezumi, Yohei
    HUMAN GENOME VARIATION, 2022, 9 (01)