[Analysis of TSC gene mutations in five patients with tuberous sclerosis complex]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):164-168. doi: 10.3760/cma.j.issn.1003-9406.2017.02.002.
[Article in Chinese]

Abstract

Objective: To identify pathogenic mutations of TSC1 and TSC2 genes in two familial and one sporadic cases with tuberous sclerosis complex (TSC).

Methods: For five patients and their family members, potential mutations of the TSC1 and TSC2 genes were detected by direct sequencing.

Results: For one family, a novel missense mutation c.1964C>T (p.S655F) was detected in the exon 19 of the TSC2 gene. For the sporadic patient, a repeat substitution with deletion mutation c.5238-5255delCATCAAGCGGCTCCGCCA (p.His1746GlnfsX56) was detected in the exon 40 of the TSC2 gene, which led to a stop codon TGA after the 56th amino acids. No mutation was found in another family.

Conclusion: The missense mutation c.1964C>T(P.S655F) and the substitution with deletion mutation 5238-5255delCATCAAGCGGCTCCGCCA(p.His1746GlnfsX56) of the TSC2 gene probably underlie the disease in the first family and the sporadic case.

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Humans
  • Male
  • Mutation, Missense*
  • Pedigree
  • Phenotype
  • Tuberous Sclerosis / genetics*
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins / genetics*

Substances

  • TSC1 protein, human
  • TSC2 protein, human
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins