Gene mutation detection for a patient with tuberous sclerosis complex
Abstract：ObjectiveTo identify pathogenic mutation of theTSC1 andTSC2 gene in a Chinese Han patient with tuberous sclerosis complex.MethodsAll the coding exons ofTSC1 andTSC2 genes of the patient, unaffected members in the family and 100 unrelated population-matched controls, were amplified by polymerase chain reaction. The products were analyzed by sequencing. ResultOne frame-shift mutation C.1884-1887delAAAG (P.Leu628Leu fsX23) from the patient was detected in the exon 15 of theTSC1 gene causing a reading frame shift and an early termination codon TGA followed by 23 amino acids. This novel mutation was not found in unaffected family members and 100 unrelated healthy controls.ConclusionThe novel frame-shift mutation C.1884-1887delAAAG in theTSC1 gene may be the underlying cause of this case with tuberous sclerosis complex.
Keywords：Tuberous sclerosis complexTSC1 geneTSC2 geneMutation
Publication Date：2016-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 168-170 )