Analysis of clinical features and genetic variants in a Chinese pedigree affected with tuberous sclerosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 363-365, 2021.
Article
Dans Chinois
| WPRIM
| ID: wpr-879587
ABSTRACT
OBJECTIVE@#To analyze the clinical features of a Chinese pedigree affected with tuberculosis sclerosis and explore its molecular pathogenesis.@*METHODS@#Clinical data of the proband and members of his pedigree were collected. Whole exome sequencing was carried out to detect variants of the TSC1 and TSC2 genes. Candidate variants was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The proband and his mother, who also had mild features of tuberous sclerosis, were found to harbor a novel heterozygous c.4183C>T (p.Q1395X) variant of the TSC2 gene, which was absent in the 4 healthy relatives. Bioinformatic analysis suggested the variant to be likely pathogenic.@*CONCLUSION@#The heterozygous c.4183C>T (p.Q1395X) variant of the TSC2 gene probably underlay the disease in this pedigree. Above finding has expanded the spectrum of TSC2 gene variants. The more severe symptoms in the proband may be attributed to phenotypic heterogeneity of this disease.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Complexe de la sclérose tubéreuse
/
Chine
/
Protéine-2 du complexe de la sclérose tubéreuse
/
Mutation
Limites du sujet:
Humains
Pays comme sujet:
Asie
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2021
Type:
Article
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