Related Experiment Video
Updated: Nov 2, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Identification of a GNB1 gene variant in a child with autosomal dominant mental retardation 42]
Ying Ren1, Yuqiang Lyu, Jian Ma
1Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, China. gaizhongtao@sina.com.
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.
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