Preliminary Screening of a Familial Tuberous Sclerosis Complex Pathogenic Gene

Yuting Wang; SongNian Hu; XinYu Tan; Qingqing Sang; Peng Shi; Chun Wang; Daoqian Sang

doi:10.2147/IJGM.S359702

Preliminary Screening of a Familial Tuberous Sclerosis Complex Pathogenic Gene

Int J Gen Med. 2022 May 26:15:5247-5252. doi: 10.2147/IJGM.S359702. eCollection 2022.

Authors

Yuting Wang¹, SongNian Hu², XinYu Tan², Qingqing Sang³, Peng Shi³, Chun Wang³, Daoqian Sang³

Affiliations

¹ Department of Neurology, The Third Affiliated Hospital of Anhui Medical University, Heifei, People's Republic of China.
² State Key Laboratory of Microbial Resources, Institute of Microbiology, Chinese Academy of Sciences, Beijing, People's Republic of China.
³ Department of Neurology, The First Affiliated Hospital of Bengbu Medical College, Bengbu, People's Republic of China.

Abstract

Purpose: The aim of this study was to screen the possible pathogenic genes of one family with tuberous sclerosis complexes (TSCs).

Patients and methods: All family members were examined through detailed clinical evaluations, auxiliary examinations and CT. Then, we selected five members from this TSC family as the test samples. They were analysed by a new exon group sequencing method. Single nucleotide polymorphisms (SNPs) were screened by using databases, such as dbSNP and HAPMAP, and then the candidate genes were selected. Genes were analysed, and finally, the most likely mutation sites were screened. The results were examined by Sanger sequencing.

Results: In this TSC family, we identified c.913+2T>G, a splicing site mutation in the 9th intron region of TSC1. Family members without TSC did not have this mutation.

Conclusion: The mutations in the intron regions cannot be ruled out as a pathogenic factor for TSC.

Keywords: intron mutation; pathogenic genes; tuberous sclerosis complex; whole exon sequencing.

Grants and funding

No funding was received.