Clinical Features and Genetic Analysis of Tuberous Sclerosis Complex in a Chinese Family Caused by c.2677-2678del Mutation on TSC2 Gene

The clinical data of patients from a Chinese family with tuberous sclerosis complex (TSC) were collected and the gene mutation type of TSC2 of proband in pedigree one was determined by polymerase chain reaction (PCR) and direct genes sequencing. There were 2 cases with TSC in the family, both of whom had facial angiofibromas, one case with ungual fibromas, the other with mental retardation. The MRI and CT showed multiple intracranial nodules together. What’s more, gene mutation analysis of TSC2 demonstrated the c.2677-2678del mutation in both and the genetic manner deduced with autosomal dominant inheritance