两名日本I型戊二酸血症患者中戊二酰辅酶A脱氢酶基因的新突变

Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I.

作者信息

Ikeda H, Kimura T, Ikegami T, Kato M, Matsunaga A, Yokoyama S, Yamaguchi S, Ohura T, Hayasaka K

机构信息

Department of Pediatrics, Yamagata University School of Medicine, Japan.

出版信息

Am J Med Genet. 1998 Dec 4;80(4):327-9.

PMID:9856558

Abstract

We identified three different point mutations in the glutaryl-CoA dehydrogenase (GCDH) gene in two unrelated Japanese patients with glutaric aciduria type I (GA-I). One patient was a homozygote for Arg355His and the other a compound heterozygote for Ser305Leu and Met339Val. Arg355His and Met339Val are mutations hitherto undescribed, and all three mutations are predicted to alter the secondary structure of GCDH. Molecular analysis is useful for definite diagnosis and/or prenatal diagnosis of GA-I.

摘要

我们在两名无亲缘关系的日本I型戊二酸血症（GA-I）患者的戊二酰辅酶A脱氢酶（GCDH）基因中鉴定出三种不同的点突变。一名患者是Arg355His纯合子，另一名患者是Ser305Leu和Met339Val复合杂合子。Arg355His和Met339Val是迄今未描述的突变，所有这三种突变预计都会改变GCDH的二级结构。分子分析对于GA-I的明确诊断和/或产前诊断很有用。