Analysis of TSC gene mutations in five patients with tuberous sclerosis complex / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 164-168, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-335164
ABSTRACT
<p><b>OBJECTIVE</b>To identify pathogenic mutations of TSC1 and TSC2 genes in two familial and one sporadic cases with tuberous sclerosis complex (TSC).</p><p><b>METHODS</b>For five patients and their family members, potential mutations of the TSC1 and TSC2 genes were detected by direct sequencing.</p><p><b>RESULTS</b>For one family, a novel missense mutation c.1964C>T (p.S655F) was detected in the exon 19 of the TSC2 gene. For the sporadic patient, a repeat substitution with deletion mutation c.5238-5255delCATCAAGCGGCTCCGCCA (p.His1746GlnfsX56) was detected in the exon 40 of the TSC2 gene, which led to a stop codon TGA after the 56th amino acids. No mutation was found in another family.</p><p><b>CONCLUSION</b>The missense mutation c.1964C>T(P.S655F) and the substitution with deletion mutation 5238-5255delCATCAAGCGGCTCCGCCA(p.His1746GlnfsX56) of the TSC2 gene probably underlie the disease in the first family and the sporadic case.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Phenotype
/
Tuberous Sclerosis
/
DNA Mutational Analysis
/
Base Sequence
/
Mutation, Missense
/
Tumor Suppressor Proteins
/
Genetics
Limits:
Adolescent
/
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2017
Type:
Article
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