Intellectual disability due to heterozygous c.40C>T variant of TRIP12 gene in a patient.
10.3760/cma.j.cn511374-20200211-00075
- VernacularTitle:TRIP12基因c.40C>T杂合变异致智力障碍一例
- Author:
Jiao LIU
1
;
Xueping CHEN
;
Huifang SHANG
Author Information
1. Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China. chenxueping0606@sina.com.
- Publication Type:Journal Article
- MeSH:
Carrier Proteins/genetics*;
Codon, Nonsense;
Female;
Heterozygote;
Humans;
Intellectual Disability/genetics*;
Ubiquitin-Protein Ligases/genetics*;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2021;38(2):131-133
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a patient with intellectual disability.
METHODS:Whole exome sequencing and Sanger sequencing were carried out for the patient. The result was verified in her family.
RESULTS:DNA sequencing revealed that the patient has carried a heterozygous nonsense c.40C>T (p.Arg14X) variant of the TRIP12 gene, which was de novo in origin. The variant was unrecorded in the Human Gene Mutation Database. Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+ PS2+ PP3).
CONCLUSION:The patient was diagnosed with autosomal dominant intellectual disability due to heterozygous c.40C>T variant of the TRIP12 gene.
