Research article

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex

Chia-Cheng Hung^1* , Yi-Ning Su^2,10* , Shu-Chin Chien³ , Horng-Huei Liou^4,5 , Chih-Chuan Chen⁴ , Pau-Chung Chen⁶ , Chia-Jung Hsieh⁶ , Chih-Ping Chen⁷ , Wang-Tso Lee⁸ , Win-Li Lin¹ and Chien-Nan Lee⁹

¹  Institute of Biomedical Engineering, College of Medicine and College of Engineering, National Taiwan University, Taipei, Taiwan

²  Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan

³  Departments of Medical Genetics and Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan

⁴  Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan

⁵  Department of Pharmacology, College of Medicine, National Taiwan University, Taipei, Taiwan

⁶  Institute of Occupational Medicine and Industrial Hygiene, National Taiwan University College of Public Health, Taipei, Taiwan

⁷  Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan

⁸  Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan

⁹  Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan

¹⁰  Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan

author email corresponding author email* Contributed equally

BMC Medical Genetics 2006, 7:72doi:10.1186/1471-2350-7-72

Published:	18 September 2006

Abstract

Background

Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by the development of multiple hamartomas in many internal organs. Mutations in either one of 2 genes, TSC1 and TSC2, have been attributed to the development of TSC. More than two-thirds of TSC patients are sporadic cases, and a wide variety of mutations in the coding region of the TSC1 and TSC2 genes have been reported.

Methods

Mutational analysis of TSC1 and TSC2 genes was performed in 84 Taiwanese TSC families using denaturing high-performance liquid chromatography (DHPLC) and direct sequencing.

Results

Mutations were identified in a total of 64 (76 %) cases, including 9 TSC1 mutations (7 sporadic and 2 familial cases) and 55 TSC2 mutations (47 sporadic and 8 familial cases). Thirty-one of the 64 mutations found have not been described previously. The phenotype association is consistent with findings from other large studies, showing that disease resulting from mutations to TSC1 is less severe than disease due to TSC2 mutation.

Conclusion

This study provides a representative picture of the distribution of mutations of the TSC1 and TSC2 genes in clinically ascertained TSC cases in the Taiwanese population. Although nearly half of the mutations identified were novel, the kinds and distribution of mutation were not different in this population compared to that seen in larger European and American studies.