Analysis of clinical features and genetic mutation of tuberous sclerosis families / 中华泌尿外科杂志

ABSTRACT

Objective:Analysis of the clinical characteristics and genetic mutations of ten tuberous sclerosis complex(TSC) families to provide support for clinical diagnosis of TSC.Methods:Retrospective analysis of ten TSC family probands and their members were performed with detailed medical history collection and physical examination. The study consisted of 26 patients in 10 TSC families, including 12 males and 14 females, with male to female ratio of 1∶1.17, and aged 7-65 years. In terms of skin lesions, there were 24 cases of facial angiofibromas, 20 cases of hypomelanotic macules, 16 cases of ungual fibromas, and 9 cases of shagreen patch. There were 12 cases of renal angiomyolipoma, 4 cases of subependymal nodules based on craniocerebral CT, and 1 case of lymphangioleiomyomatosis. Four cases had a history of seizures. Peripheral blood was extracted for next generation DNA sequencing.Results:A total of 23 TSC patients were genetically tested, and a total of 14 patients in 6 families were TSC2 mutations(5 frameshift mutations, 5 heterozygous deletions, and 4 nonsense mutations), a total of 4 patients in 2 families were TSC1 nonsense mutations, and no mutations were seen in the 2 families.Conclusions:A total of 10 TSC families were summarized, and the patients mainly had skin manifestations and kidney lesions.There were 18/23 patients having TSC1/2 mutations, of which TSC2 mutations accounting for 14/18. In the two non-mutant families, patients mainly had facial angiofibroma and/or hypomelanotic macules.