1個非酮性高甘氨酸血癥家系的臨床和分子遺傳學分析
發(fā)布時間：2019-03-12 16:06
【摘要】：非酮性高甘氨酸血癥(NKH)是一種罕見的先天性遺傳代謝性疾病,該文報道1例GLDC基因突變所致NKH的中國患兒,就其臨床經(jīng)過、基因缺陷進行研究�；純阂栽绨l(fā)性代謝性腦病以及大田原綜合征起病,血、尿串聯(lián)質譜分析均未見異常,顱腦MRI提示胼胝體發(fā)育欠佳,腦電圖提示爆發(fā)抑制。目標基因捕獲下代測序結合多重連接探針擴增發(fā)現(xiàn),患兒存在GLDC基因的母源外顯子15 c.1786 CT(p.R596X)雜合無義突變及父源外顯子4-15大片段雜合缺失,均為明確致病突變,確診為NKH。經(jīng)過促腎上腺皮質激素、托吡酯、右美沙芬治療后,患兒病情無好轉,4月齡死亡。NKH臨床表型復雜,可通過代謝篩查以及分子遺傳學分析獲得確診。
[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.
【作者單位】： 首都兒科研究所附屬兒童醫(yī)院神經(jīng)內科;首都兒科研究所遺傳研究室兒童發(fā)育營養(yǎng)組學北京市重點實驗室;
【分類號】：R725.8
本文編號：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.
【作者單位】： 首都兒科研究所附屬兒童醫(yī)院神經(jīng)內科;首都兒科研究所遺傳研究室兒童發(fā)育營養(yǎng)組學北京市重點實驗室;
【分類號】：R725.8
【相似文獻】
相關期刊論文 前4條
1 宋英士;非酮性高甘氨酸血癥[J];國外醫(yī)學(兒科學分冊);1985年04期
2 王國良;非酮性高甘氨酸血癥的產(chǎn)前診斷[J];國外醫(yī)學.遺傳學分冊;1983年02期
3 張曉霞,趙勇;非酮性高甘氨酸血癥并發(fā)急性腦積水[J];國外醫(yī)學(兒科學分冊);2000年06期
4 ;[J];;年期
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