AUTHOR=Zhou Bing-bo , Hui Ling , Zhang Qing-hua , Chen Xue , Zhang Chuan , Zheng Lei , Feng Xuan , Wang Yu-pei , Ding Zhong-jun , Chen Rui-rong , Ma Pan-pan , Liu Fu-rong , Hao Sheng-ju 

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

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.854712

DOI=10.3389/fgene.2022.854712

ISSN=1664-8021

ABSTRACT=<p><bold>Background:</bold> 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.</p><p><bold>Methods:</bold> Genomic DNA was extracted from the peripheral blood of the female proband and her family members. The <italic>AMT</italic> variation was detected in the patient by whole-exome sequencing (WES), and the variant was validated by Sanger sequencing.</p><p><bold>Results:</bold> 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 <italic>AMT</italic> 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.</p><p><bold>Conclusion:</bold> We report the novel compound heterozygous variation of the <italic>AMT</italic> gene in a Chinese girl with NKH by WES, which has never been reported previously. Our case expanded the <italic>AMT</italic> 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.</p>