Detection of TSC1/TSC2 gene mutations among patients with tuberous sclerosis complex by Ion Torrent semiconductor sequencing.
- Author:
Yuguo WANG
1
,
2
,
3
;
Ying LIN
;
Chunyu LUO
;
Dong LIANG
;
Xiuqing JI
;
Tao JIANG
;
Dingyuan MA
;
Zhengfeng XU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Base Sequence; DNA Mutational Analysis; Female; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Pregnancy; Prenatal Diagnosis; Tuberous Sclerosis; embryology; genetics; Tumor Suppressor Proteins; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2016;33(2):169-172
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo develop and validate a method for mutation screening and prenatal diagnosis of TSC1/TSC2 mutations among patients with tuberous sclerosis complex (TSC) by Ion Torrent semiconductor sequencing.
METHODSPotential mutations of SC1/TSC2 gene was detected in 2 TSC families and 1 sporadic TSC patient using an Ion Torrent PGM sequencer. Candidate variants were validated by Sanger sequencing. The corresponding site of TSC2 in the fetus of family 2 was also detected with Sanger sequencing.
RESULTSIon Torrent semiconductor sequencing has identified a probably pathogenic TSC2 mutation (c.311-312insGCTG) in the patient from family 1, and a probably pathogenic TSC2 mutation (c.1790A>G) in the patient of family 2.
CONCLUSIONTargeted Ion Torrent PGM sequencing is an accurate and efficient method to detect TSC1/TSC2 mutations in TSC.
