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Genetic analysis of 18 families with tuberous sclerosis complex.

Neurogenetics - 1 Jul 2022

Yin Kaili, Lin Nan, Lu Qiang, Jin Liri, Huang Yan, Zhou Xiangqin, Xu Kaifeng, Liu Qing, Zhang Xue

Abstract excerpt

Tuberous sclerosis complex (TSC) is mainly caused by variants in TSC1 and TSC2, which encodes hamartin protein and tuberin protein, respectively. Here, we report clinical and molecular characteristics of 18 families with TSC. High-throughput DNA sequencing was employed to detect variants in all the exons and flanking region of TSC1 and TSC2. TA clone and real-time PCR were performed to verify the pathogenicity of...

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PMID: 35596872
DOI: 10.1007/s10048-022-00694-5

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