Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Tuljaguda Complex, Mozamzahi Road, Nampally, Hyderabad, Andhra Pradesh 500001, India.
Indian J Pediatr. 2012 Oct;79(10):1366-9. doi: 10.1007/s12098-011-0408-y. Epub 2011 May 4.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder, caused due to mutations in the TSC1 and TSC2 genes. Mutations in TSC2 gene are more common than in TSC1 gene and mostly they are in the form of large genomic deletions or duplications. The authors report on a novel deletion in TSC2 gene, prenatal diagnosis and genetic counseling in a family with a 3- year- old affected male child. This is the first report on MLPA based mutation analysis of TSC1 and TSC2 genes from India.
结节性硬化症复合征（TSC）是一种常染色体显性遗传疾病，由 TSC1 和 TSC2 基因突变引起。TSC2 基因突变比 TSC1 基因突变更为常见，且大多为大片段基因缺失或重复。作者报道了一例 TSC2 基因新的缺失，对一个有 3 岁患病男童的家系进行了产前诊断和遗传咨询。这是印度首例基于 MLPA 的 TSC1 和 TSC2 基因突变分析报告。
