Related Experiment Videos
[Analysis of TSC gene mutations in five patients with tuberous sclerosis complex]
Linli Liu1, Zhengzhong Zhang, Yunzhu Mu
1Department of Dermatology, the Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan 637000, China. laowaiaeo@163.com.
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.