Evaluation of pathogenic variant in WFS1 in a patient with Wolfram syndrome

被引：0
|
作者：
Marziyeh Hoseinzadeh [1 ]
Mohammad Mehdi Jahani [2 ]
Samane Nasrniya [2 ]
Mohammad Amin Tabatabaiefar [3 ]
机构：
[1] Isfahan University of Medical Sciences,Department of Genetics and Molecular Biology, School of Medicine
[2] Harmonic Medical Genetics Lab,Department of Research and Development
[3] Shahid Beheshti University of Medical Sciences,Department of Medical Genetics, School of Medicine
[4] Isfahan Endocrine and Metabolism Research Center,Pediatric Inherited Diseases Research Center
[5] Isfahan University of Medical Sciences,undefined
[6] Research Institute for Primordial Prevention of Noncommunicable Disease,undefined
[7] Isfahan University of Medical Sciences,undefined
来源：
Egyptian Journal of Medical Human Genetics | / 26卷 / 1期
关键词：
Wolfram syndrome (WS); gene; Wolframin;
D O I：
10.1186/s43042-025-00657-z
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [21] Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome
    Gasparin, Maria Regina R.
    Crispim, Felipe
    Paula, Silvia L.
    Freire, Maria Beatriz S.
    Dalbosco, Ivaldir S.
    Della Manna, Thais
    Salles, Joao Eduardo N.
    Gasparin, Fabio
    Guedes, Alexis
    Marcantonio, Joao M.
    Gambini, Marcio
    Salim, Camila P.
    Moises, Regina S.
    EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2009, 160 (02) : 309 - 316
  • [22] Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation
    Panfili, Eleonora
    Mondanelli, Giada
    Orabona, Ciriana
    Belladonna, Maria L.
    Gargaro, Marco
    Fallarino, Francesca
    Orecchini, Elena
    Prontera, Paolo
    Proietti, Elisa
    Frontino, Giulio
    Tirelli, Eva
    Iacono, Alberta
    Vacca, Carmine
    Puccetti, Paolo
    Grohmann, Ursula
    Esposito, Susanna
    Pallotta, Maria T.
    HUMAN MOLECULAR GENETICS, 2021, 30 (3-4) : 265 - 276
  • [23] Wolfram syndrome and suicide: Evidence for a role of WFS1 in suicidal and impulsive behavior
    Sequeira, A
    Kim, C
    Seguin, M
    Lesage, A
    Chawky, N
    Desautels, A
    Tousignant, M
    Vanier, C
    Lipp, O
    Benkelfat, C
    Rouleau, G
    Turecki, G
    AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2003, 119B (01) : 108 - 113
  • [24] Wolfram syndrome 1 (Wfs1) gene expression in the normal mouse visual system
    Kawano, June
    Tanizawa, Yukio
    Shinoda, Koh
    JOURNAL OF COMPARATIVE NEUROLOGY, 2008, 510 (01) : 1 - 23
  • [25] Two novel mutations of WFS1 gene in chinese patients with Wolfram syndrome
    Fang, QC
    Jia, WP
    Shen, SX
    Zhang, R
    Li, Q
    Shao, XY
    Chai, QH
    Lu, HJ
    Xiang, KS
    DIABETES, 2005, 54 : A274 - A274
  • [26] First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene
    Domènech, E
    Kruyer, H
    Gómez, C
    Calvo, MT
    Nunes, V
    PRENATAL DIAGNOSIS, 2004, 24 (10) : 787 - 789
  • [27] Variations in the WFS1 (Wolfram syndrome) gene are not associated with type 2 diabetes
    Minton, J
    Hattersley, A
    Frayling, T
    Barrett, T
    DIABETOLOGIA, 2001, 44 : A95 - A95
  • [28] Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families
    Domènech, E
    Gómez-Zaera, M
    Nunes, V
    CLINICAL GENETICS, 2004, 65 (06) : 463 - 469
  • [29] Wolfram syndrome: Phenotypic heterogeneity and novel genetic variants in the WFS1 gene
    Lima Ferreira, Joana
    Carvalho, Vanessa
    Espada, Filipa
    Massano, Joao
    Paula Marques, Ana
    Maria Principe, Rosa
    ENDOCRINOLOGIA DIABETES Y NUTRICION, 2022, 69 (02): : 153 - 154
  • [30] The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the development of psychiatric disorders
    Martorell, L
    Zaera, MG
    Valero, J
    Serrano, D
    Figuera, L
    Joven, J
    Labad, A
    Vilella, E
    Nunes, V
    PSYCHIATRIC GENETICS, 2003, 13 (01) : 29 - 32
12345