Identification of a GNB1 gene variant in a child with autosomal dominant mental retardation 42.
10.3760/cma.j.cn511374-20200121-00044
- VernacularTitle:一例常染色体显性智力低下42型患儿的
GNB1基因变异分析
- Author:
Ying REN
1
;
Yuqiang LYU
;
Jian MA
;
Dong WANG
;
Guangye ZHANG
;
Yi LIU
;
Zhongtao GAI
Author Information
1. Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, China. gaizhongtao@sina.com.
- Publication Type:Journal Article
- MeSH:
Arthrogryposis;
Child;
Family;
GTP-Binding Protein beta Subunits;
Heterozygote;
Humans;
Intellectual Disability/genetics*;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2021;38(6):565-568
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child featuring global developmental delay.
METHODS:DNA was extracted from peripheral blood sample taken from the patient and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members.
RESULTS:A heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene was detected in the proband, which was a verified to be de novo in origin.
CONCLUSION:The heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene probably underlay the disease in this child.
