Fig. 1

(a) The family diagram of the TSC1 c.363 + 668G > C mutation reported in this study. Circles represent women, and squares represent men. Patients with the TSC1 gene mutation are marked in green. The proband is indicated by an arrow. Diagonal lines indicate death. In this family, four surviving patients show considerable clinical phenotypic heterogeneity. The proband’s condition is primarily characterized by pulmonary nodules (such as MMPH), while others exhibit lymphatic nodules (such as LAM). (b) The first-generation Sanger sequencing map of the TSC1 c.363 + 668G > C mutation. When the G→C mutation occurs, the originally unimodal signal becomes bimodal. (c) The first-generation Sanger sequencing map of the TSC1 wild type. In the absence of mutation, the signal corresponding to this base is unimodal.