Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases

被引：2
|
作者：
Zhang, Na [1 ]
Hou, Mei [2 ]
Ma, Shaochun [2 ]
Liu, Yedan [1 ]
Wei, Wei [3 ]
Chen, Zongbo [1 ]
机构：
[1] Qingdao Univ, Affiliated Hosp, Dept Pediat, 16 Jiangsu Rd, Qingdao 266000, Shandong, Peoples R China
[2] Qingdao Women & Children Hosp, Dept Pediat, Qingdao, Peoples R China
[3] Kangso Med Inspect Co Ltd, Beijing, Peoples R China
来源：
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE | 2021年 / 81卷 / 01期
关键词：
deafness; epilepsy;
D O I：
10.1002/jdn.10070
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
Purpose: To identify the causative variants in two unrelated Chinese patients presenting with epilepsy and deafness. Methods: The two patients underwent a thorough examination, including brain MRI, EEG and metabolic studies. Next-generation sequencing (NGS) was performed on genomic DNA samples from the siblings and parents. Sanger sequencing was used to confirm the variants. Results: Gene sequencing revealed that they carried two novel compound heterozygous missense variants of the TBC1D24: c.116 C > T (p.Ala39Val) and c.827 T > C (p.Ile276Thr) in patient 1; c.404 C > T (p.Pro135Leu) and c.679 T > C (p.Arg227Trp) in patient 2. Audiologic examination showed bilateral sensorineural hearing loss in both patients. Conclusion: We have found novel variants in the TBC1D24 in two Chinese unrelated patients. They result in a rare phenotype, characterized by drug-resistant epilepsy and deafness.
引用
收藏
页码：98 / 105
页数：8
相关论文
共 50 条
  • [1] Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants
    Tona, Risa
    Inagaki, Sayaka
    Ishibashi, Yasuko
    Faridi, Rabia
    Yousaf, Rizwan
    Roux, Isabelle
    Wilson, Elizabeth
    Fenollar-Ferrer, Cristina
    Chien, Wade W.
    Belyantseva, Inna A.
    Friedman, Thomas B.
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2024, 300 (09)
  • [2] Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86
    Rehman, Atteeq U.
    Santos-Cortez, Regie Lyn P.
    Morell, Robert J.
    Drummond, Meghan C.
    Ito, Taku
    Lee, Kwanghyuk
    Khan, Asma A.
    Basra, Muhammad Asim R.
    Wasif, Naveed
    Ayub, Muhammad
    Ali, Rana A.
    Raza, Syed I.
    Nickerson, Deborah A.
    Shendure, Jay
    Bamshad, Michael
    Riazuddin, Saima
    Billington, Neil
    Khan, Shaheen N.
    Friedman, Penelope L.
    Griffith, Andrew J.
    Ahmad, Wasim
    Riazuddin, Sheikh
    Leal, Suzanne M.
    Friedman, Thomas B.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 94 (01) : 144 - 152
  • [3] TBC1D24 Syndromes in 10 Pediatric Cases
    Mondragon, E.
    Armstrong, D.
    Sirsi, D.
    ANNALS OF NEUROLOGY, 2023, 94 : S57 - S57
  • [4] Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations
    Zhang, Jing
    Chen, Jiaoyang
    Zeng, Qi
    Zhang, Liping
    Tian, Xiaojuan
    Yang, Xiaoling
    Yang, Zhixian
    Wu, Ye
    Wu, Xiru
    Zhang, Yuehua
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2019, 69 : 228 - 234
  • [5] A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24
    Corbett, Mark A.
    Bahlo, Melanie
    Jolly, Lachlan
    Afawi, Zaid
    Gardner, Alison E.
    Oliver, Karen L.
    Tan, Stanley
    Coffey, Amy
    Mulley, John C.
    Dibbens, Leanne M.
    Simri, Walid
    Shalata, Adel
    Kivity, Sara
    Jackson, Graeme D.
    Berkovic, Samuel F.
    Gecz, Jozef
    AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (03) : 371 - 375
  • [6] Novel TBC1D24 Mutations in a Case of Nonconvulsive Status Epilepticus
    Li, Jingjing
    Liu, Ruihong
    Feng, Huiyu
    Zhang, Jian
    Wang, Dilong
    Wang, Yiming
    Zeng, Jinsheng
    Fan, Yuhua
    FRONTIERS IN NEUROLOGY, 2018, 9 : 1 - 6
  • [7] Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness
    Tona, Risa
    Lopez, Ivan A.
    Fenollar-Ferrer, Cristina
    Faridi, Rabia
    Anselmi, Claudio
    Khan, Asma A.
    Shahzad, Mohsin
    Morell, Robert J.
    Gu, Shoujun
    Hoa, Michael
    Dong, Lijin
    Ishiyama, Akira
    Belyantseva, Inna A.
    Riazuddin, Sheikh
    Friedman, Thomas B.
    GENES, 2020, 11 (10) : 1 - 25
  • [8] TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation
    Afawi, Zaid
    Mandelstam, Simone
    Korczyn, Amos D.
    Kivity, Sara
    Walid, Simri
    Shalata, Adel
    Oliver, Karen L.
    Corbett, Mark
    Gecz, Jozef
    Berkovic, Samuel F.
    Jackson, Graeme D.
    EPILEPSY RESEARCH, 2013, 105 (1-2) : 240 - 244
  • [9] TBC1D24 mutations are implicated in DOORS syndrome
    Nature Reviews Neurology, 2014, 10 (1) : 3 - 3
  • [10] A rare cause of paroxysmal movement disorder associated with TBC1D24 Gene mutation in two siblings
    Sarigecili, Esra
    Anlas, Ozlem
    ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2023, 26 (03) : 290 - 293
12345