Comprehensive analysis of gene mutation and phenotype of tuberous sclerosis complex in China

<p><strong>Objective </strong> To summarize the clinical features of tuberous sclerosis complex (TSC), the distribution and description of TSC gene, and to probe into the correlation of genotype with phenotype. <strong>Methods</strong> According to the 1998 International Tuberous Sclerosis Complex Diagnostic Criteria, a total of 163 TSC patients with pathogenic mutation in <em>TSC</em> gene (3 cases were detected in our hospital, and the other 160 cases were collected from other institutions in China) were enrolled, and their gene detection results and clinical data were analyzed. <strong>Results</strong> Among 163 cases, <em>TSC1</em> mutation (31 cases) accounted for 19.02% [32.26% (10/31) in exon 15, 16.13% (5/31) in exon 21, 12.90% (4/31) in exon 18], and <em>TSC2</em> mutation (132 cases) accounted for 80.98% [9.85% (13/132) in exon 37, 7.58% (10/132) in exon 40, 6.82%(9/132) in exon 33]. The proportion of base replacement in <em>TSC1</em> was 41.94% (13/31), and 52.27% (69/132) in <em>TSC2</em>. Male patients exhibited significantly more subependymal nodules or calcifications than thefemale patients (<em>χ²</em> = 8.016, <em>P</em> = 0.005). Sporadic patients exhibited significantly more cortical tubers than familial patients (<em>χ²</em> = 6.273, <em>P</em> = 0.012). Patients with <em>TSC2</em> mutations had significantly higher frequencies of hypomelanotic macules than patients with <em>TSC1</em> mutations (<em>χ²</em>= 6.756, <em>P</em> = 0.009). Patients with missense mutations were more likely to have facial angiofibromas compared with patients with other mutations (<em>χ²</em> = 4.438, <em>P </em>= 0.035). <strong> Conclusions</strong> Exon 15, 21 and 18 of TSC1 and exon 37, 40 and 33 of TSC2 accounted for higher percentage of mutations. Correlating genotypes with phenotypes should facilitate the individualized treatment and prognostic assessment of tuberous sclerosis complex.</p><p> </p><p><strong>DOI: </strong>10.3969/j.issn.1672-6731.2015.04.013