Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex and a literature review of 20 patients reported in China

Conflicts of interest: None declared. Tuberous sclerosis complex (TSC, OMIM 191100) is an autosomal dominant disorder characterized by the development of multiple hamartomas involving many organs, especially the brain, kidneys, heart and skin. Most patients with TSC mutations have been reported in America, Europe and Japan. Two genes (TSC1 and TSC2) responsible for this disease have been identified, and both of them are speculated to be a kind of tumour suppressor gene.1, 2 We report one multiple‐generation family and one sporadic case of TSC, each with a novel mutation of TSC2, and present a literature review of 20 patients of Chinese origin with TSC mutations reported since 1994. One three‐generation family (Fig. 1) and one sporadic case were identified through probands from Anhui province of China. In the TSC family, all affected individuals belonging to three consecutive generations had similar clinical manifestations as indicated in Table 1 and showed an autosomal dominant inheritance pattern. Detailed information of brain computed tomography (CT) or magnetic resonance imaging (MRI) was not available from the proband. The sporadic case showed epilepsy, moderate mental retardation and facial angiofibromas. Brain CT and MRI revealed subependymal calcifications and cortical tubers. Lesional skin biopsy from the probands revealed the typical histopathological characteristics of TSC. Blood samples were obtained from all available family members and 100 unrelated population‐matched volunteers.