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

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作者信息

Ren Ying, Lyu Yuqiang, Ma Jian, Wang Dong, Zhang Guangye, Liu Yi, Gai Zhongtao

机构信息

Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jun 10;38(6):565-568. doi: 10.3760/cma.j.cn511374-20200121-00044.

DOI:10.3760/cma.j.cn511374-20200121-00044

PMID:34096027

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.

摘要

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