1个非酮性高甘氨酸血症家系的临床和分子遗传学分析
发布时间：2019-03-12 16:06
【摘要】：非酮性高甘氨酸血症(NKH)是一种罕见的先天性遗传代谢性疾病,该文报道1例GLDC基因突变所致NKH的中国患儿,就其临床经过、基因缺陷进行研究。患儿以早发性代谢性脑病以及大田原综合征起病,血、尿串联质谱分析均未见异常,颅脑MRI提示胼胝体发育欠佳,脑电图提示爆发抑制。目标基因捕获下代测序结合多重连接探针扩增发现,患儿存在GLDC基因的母源外显子15 c.1786 CT(p.R596X)杂合无义突变及父源外显子4-15大片段杂合缺失,均为明确致病突变,确诊为NKH。经过促肾上腺皮质激素、托吡酯、右美沙芬治疗后,患儿病情无好转,4月龄死亡。NKH临床表型复杂,可通过代谢筛查以及分子遗传学分析获得确诊。
[Abstract]:Non-ketohyperglycinemia (NKH) is a rare congenital metabolic disease. This paper reports a case of NKH caused by GLDC gene mutation in China. The onset of the disease was early metabolic encephalopathy and field syndrome. No abnormality was found in blood and urine tandem mass spectrum analysis. Brain MRI suggested that the corpus callosum was not well developed, and EEG indicated that the onset of the disease was inhibited. The target gene capture next generation sequencing combined with multiplex ligated probe amplification revealed that there were heterozygous mutations in the maternal exon 15 c. 1786 CT (p.R596X) of the GLDC gene and a large heterozygous deletion in the paternal exon 4. All of them were confirmed to be pathogenic mutations, and were diagnosed as NKH.. After treatment with corticotropin, topiramate and dextromethorphan, the disease did not improve and died at the age of 4 months. The clinical phenotype of NKH was complicated and could be confirmed by metabolic screening and molecular genetic analysis.
【作者单位】： 首都儿科研究所附属儿童医院神经内科;首都儿科研究所遗传研究室儿童发育营养组学北京市重点实验室;
【分类号】：R725.8
本文编号：2438934
[Abstract]:Non-ketohyperglycinemia (NKH) is a rare congenital metabolic disease. This paper reports a case of NKH caused by GLDC gene mutation in China. The onset of the disease was early metabolic encephalopathy and field syndrome. No abnormality was found in blood and urine tandem mass spectrum analysis. Brain MRI suggested that the corpus callosum was not well developed, and EEG indicated that the onset of the disease was inhibited. The target gene capture next generation sequencing combined with multiplex ligated probe amplification revealed that there were heterozygous mutations in the maternal exon 15 c. 1786 CT (p.R596X) of the GLDC gene and a large heterozygous deletion in the paternal exon 4. All of them were confirmed to be pathogenic mutations, and were diagnosed as NKH.. After treatment with corticotropin, topiramate and dextromethorphan, the disease did not improve and died at the age of 4 months. The clinical phenotype of NKH was complicated and could be confirmed by metabolic screening and molecular genetic analysis.
【作者单位】： 首都儿科研究所附属儿童医院神经内科;首都儿科研究所遗传研究室儿童发育营养组学北京市重点实验室;
【分类号】：R725.8
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相关期刊论文 前4条
1 宋英士;非酮性高甘氨酸血症[J];国外医学(儿科学分册);1985年04期
2 王国良;非酮性高甘氨酸血症的产前诊断[J];国外医学.遗传学分册;1983年02期
3 张晓霞,赵勇;非酮性高甘氨酸血症并发急性脑积水[J];国外医学(儿科学分册);2000年06期
4 ;[J];;年期
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