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=Volume 13 - 2022

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=Abstract
Background : Nonketotic hyperglycinemia (NKH) is a metabolic disease with autosomal recessive inheritance, due to the glycine cleavage system (GCS) defect leading to the accumulation of glycine causes severe and fatal neurological symptoms in the neonate period. 
Methods: Genomic DNA was extracted from the peripheral blood of the female proband and her family members. The AMT variation was detected in the patient by whole-exome sequencing (WES) and the variant was validated by Sanger sequencing from the family.
Results: 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 8 of AMT gene (NM_000481.4) in the proband. Genetics analysis showed that the former was inherited from the mother, the latter is inherited from the father.
Conclusion: We report the novel compound heterozygous variation of AMT gene in a Chinese girl with NKH by WES, which has never reported previously. Our case expanded the AMT 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.
Keywords: nonketotic hyperglycinemia, glycine encephalopathy, high-throughput sequencing, AMT genes, glycine