Novel mutations in Chinese Han patients with tuberous sclerosis complex: Case series and review of the published work

作者：Zheng Li Yun; Lee Yu Wei; Han Yang; Tang Li Li; Cheng Yu Yan; Dou Jin Fa; Zhou Fu Sheng; Zheng Xiao Dong; Wang Hong Yan; Wang Pei Guang; Gao Min^*

来源：Journal of Dermatology, 2018, 45(7): 867-870.

DOI：10.1111/1346-8138.14349

• Chinese patients
• gene mutation
• genotype-phenotype correlation
• TSC1 and TSC2
• tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease characterized by hamartomas in multiple organ systems. This study was performed in one familial and two sporadic cases with TSC. Two novel mutations (c.1884_1887delAAAG and c.5266A>G) and two previously reported mutations (c.4258_4261delTCAG and c.1960G>C) were identified by direct DNA sequencing. Of the four mutations, c.1884_1887delAAAG and c.1960G>C were found in a family and identified in the same allele by TA cloning sequencing. However, c.1960G>C was reported to be non-pathogenic. Furthermore, correlations between genotypes and phenotypes of Chinese Han patients since 2014 were performed by paired (2)-tests in our published work review, which has not been reported. The results showed that patients with TSC2 mutations had a higher frequency of mental retardation and there were no significant differences of seizures and skin lesions with TSC1 mutations. Genetically, they had a higher frequency of familial inheritance.

• 出版日期2018-7
• 单位安徽医科大学