Preliminary Screening of a Familial Tuberous Sclerosis Complex Pathogenic Gene

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

Full description

Saved in:
Bibliographic Details
Published in:International journal of general medicine 2022-05, Vol.15, p.5247-5252
Main Authors: Wang, Yuting, Hu, SongNian, Tan, XinYu, Sang, Qingqing, Shi, Peng, Wang, Chun, Sang, Daoqian
Format: Article
Language:English
Subjects:
DNA sequencing
Ethylenediaminetetraacetic acid
Genes
intron mutation
Nucleotide sequencing
Original Research
pathogenic genes
Single nucleotide polymorphisms
Tuberous sclerosis
tuberous sclerosis complex
whole exon sequencing
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The aim of this study was to screen the possible pathogenic genes of one family with tuberous sclerosis complexes (TSCs). 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. 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. The mutations in the intron regions cannot be ruled out as a pathogenic factor for TSC.
ISSN:1178-7074
1178-7074
DOI:10.2147/IJGM.S359702