TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex

Overview

Journal Neuromolecular Med

Specialty Biochemistry

Date 2015 Apr 23

PMID 25900779

Citations 2

Authors

Yu Zhang

Jing Gan

Zheng Pu

Ming Ming Xu

Li Feng Wang

Yu Hua Li

Zhen Guo Liu

Affiliations

Soon will be listed here.

Abstract

Tuberous sclerosis complex is a rare autosomal dominant disorder caused by mutations in either of TSC1 and TSC2 genes. Tuberous sclerosis complex presents diverse clinical characteristics, and either of TSC1 and TSC2 genes shows a wide range of mutations in their coding regions. However, the correlation between genotype and phenotype is yet unknown. We describe the clinical characteristics of a Chinese family with TSC1 gene mutation and present a literature review of Chinese patients with tuberous sclerosis complex gene mutation reported since 2004. This is the first report of TSC1 R509X mutation in a Chinese family, which might deepen our insight into the clinical and molecular pathogenesis of tuberous sclerosis complex.

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References

Niida Y, Banwell A, Hammer E, Lewis J, Beauchamp R, Sims K . Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. Hum Mutat. 1999; 14(5):412-22. DOI: 10.1002/(SICI)1098-1004(199911)14:5<412::AID-HUMU7>3.0.CO;2-K. View

Yu Z, Zhang X, Guo H, Bai Y . A novel TSC2 mutation in a Chinese family with tuberous sclerosis complex. J Genet. 2014; 93(1):169-72. DOI: 10.1007/s12041-014-0320-0. View

Li W, Zhou L, Gao B, Li L, Zhong C, Gong F . [Mutation screening and prenatal diagnosis of tuberous sclerosis complex]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011; 28(4):361-6. DOI: 10.3760/cma.j.issn.1003-9406.2011.04.001. View

Yuan C, Chang X, Gao M, Xiao F, Wu Y, Liu Q . A novel mutation (insTCCG) in the TSC2 gene in a Chinese patient with tuberous sclerosis complex. J Dermatol Sci. 2007; 49(1):92-4. DOI: 10.1016/j.jdermsci.2007.08.002. View

Roach E, DiMario F, Kandt R, Northrup H . Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol. 1999; 14(6):401-7. DOI: 10.1177/088307389901400610. View

Mi C, Wang H, Jiang H, Sun R, Wang G . Mutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex. Genet Mol Res. 2014; 13(1):2102-6. DOI: 10.4238/2014.March.24.14. View

Crino P . Evolving neurobiology of tuberous sclerosis complex. Acta Neuropathol. 2013; 125(3):317-32. DOI: 10.1007/s00401-013-1085-x. View

Han J, Sahin M . TSC1/TSC2 signaling in the CNS. FEBS Lett. 2011; 585(7):973-80. PMC: 3070766. DOI: 10.1016/j.febslet.2011.02.001. View

Napolioni V, Curatolo P . Genetics and molecular biology of tuberous sclerosis complex. Curr Genomics. 2009; 9(7):475-87. PMC: 2691673. DOI: 10.2174/138920208786241243. View

10.

Wang G, Wang D, Yi C, Qu J, Wang Y . Mutational analyses of the TSC1 and TSC2 genes in cases of tuberous sclerosis complex in Chinese Han children. Genet Mol Res. 2013; 12(2):1168-75. DOI: 10.4238/2013.April.12.3. View

11.

Zuo F, Fu X, Liu H, Yu Y, Yu G, Tian H . Three novel mutations of TSC1 gene in Chinese patients with tuberous sclerosis complex. Int J Dermatol. 2013; 52(10):1277-9. DOI: 10.1111/j.1365-4632.2011.05199.x. View

12.

Curatolo P, Bombardieri R, Jozwiak S . Tuberous sclerosis. Lancet. 2008; 372(9639):657-68. DOI: 10.1016/S0140-6736(08)61279-9. View

13.

Sancak O, Nellist M, Goedbloed M, Elfferich P, Wouters C, Maat-Kievit A . Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. Eur J Hum Genet. 2005; 13(6):731-41. DOI: 10.1038/sj.ejhg.5201402. View

14.

Yuan C, Chang X, Wu Y, Liu Q, Gao M, Xiao F . [Analysis of gene mutations in two patients with tuberous sclerosis complex]. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2007; 29(2):205-8. View

15.

Zhao X, Yang S, Zhou H, Zhu Y, Wei L, Du W . Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex and a literature review of 20 patients reported in China. Br J Dermatol. 2006; 155(5):1070-3. DOI: 10.1111/j.1365-2133.2006.07469.x. View

16.

Chen C, Chang T, Guo W, Su Y, Chen Y, Chern S . Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family.... Taiwan J Obstet Gynecol. 2013; 52(3):415-9. DOI: 10.1016/j.tjog.2013.05.002. View

17.

van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S . Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997; 277(5327):805-8. DOI: 10.1126/science.277.5327.805. View