Abstract:objective To identify pathogenic mutation of the TSC1 and TSC2 genes in a family with tuberous sclerosis, and to analyze clinical data of this mutation. Methods Peripheral venous blood samples and clinical data of the patients and her parents were collected. Genomic DNA was extracted. All coding exons of the TSC1 and TSC2 genes were amplified by polymerase chain reaction and subjected to direct sequencing. The clinical data of all patients with this mutation in internal reports were concluded. Result The patient has presented angiofibroma of the right waists, left popliteal fossa and face for more than twenty years. She also had epilepsy but no mental retardation. A nosense mutation was c.1513C>T was detected in exon 14 of the TSC2 gene, which had led to a premature stop eodon TAG after the 505th amino acids.The same mutation was not found in her parents and 25 unrelated healthy controls. Conclusion The nosense mutation c.1513C>T in the TSC2 gene may be responsible for the disease in the patients and the clinical phenotype of this mutation was very diverse.
