Yuanfeng Zhou1, Xinhua Wang1, Ji Wang1, Yifeng Ding1, Yi Wang1, Hao Li2, Rui Zhao3, Bingbing Wu4. 1. Department of Neurology, Children's Hospital of Fudan University, No.399, Wanyuan Road, Shanghai, 201102, China. 2. Department of Neurosurgery, Children's Hospital of Fudan University, No.399, Wanyuan Road, Shanghai, 201102, China. 3. Department of Neurosurgery, Children's Hospital of Fudan University, No.399, Wanyuan Road, Shanghai, 201102, China. zhao007rui007@sina.com. 4. The Molecular Genetic Diagnosis Center, Shanghai Key Lab of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, No.399, Wanyuan Road, Shanghai, 201102, China. bingbingwu2010@163.com.
Abstract
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder, mainly in childhood presents epilepsy due to cortical tubers. TSC1/TSC2 pathogenic variants cannot be detected in regular molecular genetic testing in around 10-15% of TSC patients. METHODS: We analyzed TSC genes in both cortical tuber, blood and skin samples from a pediatric patient with refractory epilepsy. RESULTS: We found no germline mutations by whole-exome sequencing. Well in targeted sequencing of TSC1/2 data, we identified de novo mutations only in cortical tuber: TSC2 NM_000548.5: exon34:c.4183C>T (p.Gln1395*) in 3% of the alleles. No other TSC mutations were found in patient's blood and skin samples and her parents' blood sample. CONCLUSION: Our case report found TSC2 mosaic mutations can be only limited to cortical tuber in patients with TSC.
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder, mainly in childhood presents epilepsy due to cortical tubers. TSC1/TSC2 pathogenic variants cannot be detected in regular molecular genetic testing in around 10-15% of TSC patients. METHODS: We analyzed TSC genes in both cortical tuber, blood and skin samples from a pediatric patient with refractory epilepsy. RESULTS: We found no germline mutations by whole-exome sequencing. Well in targeted sequencing of TSC1/2 data, we identified de novo mutations only in cortical tuber: TSC2 NM_000548.5: exon34:c.4183C>T (p.Gln1395*) in 3% of the alleles. No other TSC mutations were found in patient's blood and skin samples and her parents' blood sample. CONCLUSION: Our case report found TSC2 mosaic mutations can be only limited to cortical tuber in patients with TSC.
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