Pediatric Department, the Affiliated Hospital of Qingdao University, Qingdao, P.R. China.
Pediatric Department, the Qingdao Women & Children Hospital, Qingdao, P.R. China.
Int J Dev Neurosci. 2021 Feb;81(1):98-105. doi: 10.1002/jdn.10070. Epub 2021 Jan 20.
To identify the causative variants in two unrelated Chinese patients presenting with epilepsy and deafness.
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.
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.
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.
鉴定 2 名表现为癫痫伴耳聋的中国无关患者的致病变异。
对这 2 名患者进行了全面检查，包括脑 MRI、EEG 和代谢研究。对兄弟姐妹和父母的基因组 DNA 样本进行了下一代测序（NGS）。对变异进行了 Sanger 测序验证。
基因测序显示，患者 1 携带 TBC1D24 的两个新的复合杂合错义变异：c.116 C>T（p.Ala39Val）和 c.827 T>C（p.Ile276Thr）；患者 2 携带 TBC1D24 的两个新的复合杂合错义变异：c.404 C>T（p.Pro135Leu）和 c.679 T>C（p.Arg227Trp）。听力学检查显示两名患者均为双侧感音神经性听力损失。
我们在 2 名中国无关患者中发现了 TBC1D24 的新变异。它们导致了一种罕见的表型，表现为耐药性癫痫和耳聋。
