Korman Stanley H, Gutman Alisa, Stemmer Edia, Kay Barrie S, Ben-Neriah Ziva, Zeigler Marsha
Department of Clinical Biochemistry, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Prenat Diagn. 2004 Nov;24(11):857-60. doi: 10.1002/pd.1000.
Hyperargininemia is a progressive neurometabolic disorder caused by deficiency of hepatic cytosolic arginase I, resulting from mutations in the ARG1 gene. We diagnosed arginase deficiency in a three-year-old male child of first-cousin Palestinian Arab parents. Prenatal diagnosis of an unaffected fetus was achieved in the second trimester of a subsequent pregnancy by cordocentesis and analysis of arginase activity in fetal erythrocytes. ARG1 mutation analysis in the proband revealed homozygosity for a deletion of 10,753 bp extending from the first intron to beyond the poly (A) site of the gene. This is the first gross deletion in the ARG1 gene to be identified and the first mutation to be described in an arginase-deficient patient of this ethnic origin. The identification of the ARG1 deletion in this family enabled first-trimester prenatal diagnosis in a subsequent pregnancy by multiplex PCR analysis performed on chorionic villous DNA.
高精氨酸血症是一种进行性神经代谢障碍，由肝脏胞质精氨酸酶I缺乏引起，该缺乏是由ARG1基因突变所致。我们诊断出一名三岁男童患有精氨酸酶缺乏症，其父母为巴勒斯坦阿拉伯近亲。在随后的一次妊娠中期，通过脐静脉穿刺术及分析胎儿红细胞中的精氨酸酶活性，对一名未受影响的胎儿进行了产前诊断。对先证者的ARG1突变分析显示，该基因存在一个10,753 bp的缺失纯合子，该缺失从第一个内含子延伸至基因的多聚腺苷酸位点之外。这是首次鉴定出的ARG1基因大片段缺失，也是首次在该种族来源的精氨酸酶缺乏患者中描述的突变。该家族中ARG1缺失的鉴定使得在随后的妊娠中通过对绒毛膜绒毛DNA进行多重PCR分析实现了孕早期产前诊断。
