Identification of a GNB1 gene variant in a child with autosomal dominant mental retardation 42

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.