Clinical characteristics and genetic analysis of two children with Tuberous sclerosis complex / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1521-1525, 2023.
Article
in Chinese
| WPRIM
| ID: wpr-1009333
ABSTRACT
OBJECTIVE@#To explore the clinical characteristics and genetic variants in two children with Tuberous sclerosis complex (TSC).@*METHODS@#Two children who had presented at the Children's Hospital Affiliated to Zhengzhou University respectively in June 2020 and July 2021 were selected as the study subjects. Clinical data of the children were collected, and potential pathogenic variants were screened by whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of their family members.@*RESULTS@#Child 1 was a 7-month-and-29-day-old male, and child 2 was a 2-year-and-6-month-old male. Both children had shown symptoms of epileptic seizures and multiple hypomelanotic macules. Genetic testing revealed that both children had harbored de novo variants of the TSC2 gene, namely c.3239_3240insA and c.3330delC, which were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as pathogenic (PVS1+PS2+PM2_Supporting).@*CONCLUSION@#This study has uncovered the genetic etiology for two children with TSC. Above findings have also enriched the phenotypic and mutational spectrum of TSC in the Chinese population.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Tuberous Sclerosis
/
Family
/
Genetic Testing
/
Genomics
/
East Asian People
/
Mutation
Limits:
Child, preschool
/
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2023
Type:
Article
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