Detection of new mutations in 3 cases de novo tuberous sclerosis

Novel Stop-Gain TSC2 Gene Mutation in an Indian Child of Tuberous Sclerosis Complex

“…This variant results in a pre-mature termination codon and has not been reported previously in population databases, such as 1000 Genomes, Exome Variant Server, Genome Aggregation Database, ClinVar, Online Mendelian Inheritance in Man and Human Genome Mutation Database or in the latest reviews. [ 9 ] It is classified as “pathogenic” according to the American College of Medical Genetics and Genomics guidelines.…”