Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex

Tuberous sclerosis complex (TSC), first described in 1862, is an autosomal dominant genetic disorder of high penetrance [1]. It has an incidence of 1/6000 to 1/10,000 live births and is characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung [2 –4]. The phenotypic manifestations of the disease are highly variable. It often causes disabling neurologic disorders such as epilepsy and skin lesions such as hypomelanotic macules. Cardiac rhabdomyomas, retinal hamartomas, renal angiomyolipomas, and pulmonary lymphangiomyomatosis can also occur.

Source: Clinical Neurology and Neurosurgery - January 30, 2017 Category: Neurosurgery Authors: Tingting Yu, Yingzhong He, Niu Li, Yunqing Zhou, Zhiping Wang, Qihua Fu, Jiwen Wang, Jian Wang Source Type: research