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
em Zh
| WPRIM
| ID: wpr-335164
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WPRO
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>
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Índice:
WPRIM
Assunto principal:
Linhagem
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Fenótipo
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Esclerose Tuberosa
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Análise Mutacional de DNA
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Sequência de Bases
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Mutação de Sentido Incorreto
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Proteínas Supressoras de Tumor
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Genética
Limite:
Adolescent
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Adult
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Child, preschool
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Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Article