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

页码：98 / 105

页数：8

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