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
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