Genetic analysis of a case with Pitt-Hopkins syndrome due to variant of TCF4 gene.
10.3760/cma.j.cn511374-20190725-00372
- Author:
Jian MA
1
;
Huawei ZHANG
;
Kaihui ZHANG
;
Yuqiang LYU
;
Min GAO
;
Dong WANG
;
Zhongtao GAI
;
Yi LIU
Author Information
1. Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.
- Publication Type:Journal Article
- MeSH:
Facies;
Genetic Testing;
Humans;
Hyperventilation/genetics*;
Intellectual Disability/genetics*;
Male;
Transcription Factor 4/genetics*
- From:
Chinese Journal of Medical Genetics
2020;37(11):1253-1256
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis of a patient presenting with dysmorphism, intellectual disability, psychomotor delay and hypoplasia of corpus callosum by using next generation sequencing.
METHODS:Genomic DNA was extracted from peripheral blood samples of the patient and his family members and subjected to exome sequencing. Suspected variants were verified with Sanger sequencing.
RESULTS:The patient was found to carry a heterozygous c.1357delAinsGGA variant in exon 11 of the TCF4 gene, which was verified as de novo by Sanger sequencing. The variant may result in a truncated protein and affect its function.
CONCLUSION:The heterozygous c.1357delAinsGGA variant the TCF4 gene probably underlies the disease in the proband.
