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Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases
Author(s) -
Zhang Na,
Hou Mei,
Ma Shaochun,
Liu Yedan,
Wei Wei,
Chen Zongbo
Publication year - 2021
Publication title -
international journal of developmental neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.761
H-Index - 88
eISSN - 1873-474X
pISSN - 0736-5748
DOI - 10.1002/jdn.10070
Subject(s) - epilepsy , missense mutation , sanger sequencing , sensorineural hearing loss , medicine , hearing loss , genetics , audiology , compound heterozygosity , dna sequencing , phenotype , biology , gene , psychiatry
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.