The Mutation Analysis of the AMT Gene in a Chinese Family With Nonketotic Hyperglycinemia

Overview

Journal Front Genet

Date 2022 Jun 1

PMID 35646099

Authors

Bing-Bo Zhou

Ling Hui

Qing-Hua Zhang

Xue Chen

Chuan Zhang

Lei Zheng

Xuan Feng

Yu-Pei Wang

Zhong-Jun Ding

Rui-Rong Chen

Pan-Pan Ma

Fu-Rong Liu

Sheng-Ju Hao

Affiliations

Soon will be listed here.

Abstract

Nonketotic hyperglycinemia is a metabolic disease with autosomal recessive inheritance due to the glycine cleavage system (GCS) defect leading to the accumulation of glycine that causes severe and fatal neurological symptoms in the neonatal period. Genomic DNA was extracted from the peripheral blood of the female proband and her family members. The variation was detected in the patient by whole-exome sequencing (WES), and the variant was validated by Sanger sequencing. The WES showed that there were novel compound heterozygous frameshift variations c.977delA (p.Glu326Glyfs*12) and c.982_983insG (p.Ala328Glyfs*22) in exon eight of the gene (NM_000481.4) in the proband. Genetic analysis showed that the former was inherited from the mother, and the latter was inherited from the father. We report the novel compound heterozygous variation of the gene in a Chinese girl with NKH by WES, which has never been reported previously. Our case expanded the gene mutation spectrum, further strengthened the understanding of NKH, and deepened the genetic and clinical heterogeneity of the disease. However, the study of treatment and prognosis is still our future challenge and focus.

Citing Articles

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