Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview
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DOI：
10.1002/(sici)1098-1004(1997)9:4
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发表时间：
1997
期刊：
影响因子：
3.9
通讯作者：
M. St‐Louis;R. Tanguay
中科院分区：
文献类型：
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作者：
M. St‐Louis;R. Tanguay
I型酪氨酸血症是一种先天性代谢错误，由酪氨酸分解代谢途径的最后一种酶富马酸乙酰乙酸酯水解酶(FAH)缺乏引起。这种疾病在世界各地都有报道，但发病率各不相同。最近，在鉴定FAH基因突变方面取得了相当大的进展。目前已报道了26个突变，均由单碱基替换导致16个氨基酸替换，1个沉默突变导致剪接缺陷，5个无义密码子，4个推测的剪接缺陷。这些突变的位置分布在整个FAH基因上，在氨基酸残基230和250之间有一个特殊的聚集区。在亚群和高危人群中识别这些突变应该有助于HTI的诊断和遗传咨询。我们描述了到目前为止报道的所有26个突变及其在诊断和携带者检测中的意义。1997年，嗡嗡作响9：291-299。©1997 Wiley-Liss，Inc.
Tyrosinemia type I is an inborn error of metabolism caused by a deficiency in the last enzyme of the tyrosine catabolic pathway, fumarylacetoacetate hydrolase (FAH). The disease has been reported worldwide with varying incidence. Recently, there has been considerable progress in identifying mutations in the FAH gene. At present 26 mutations have been reported, all consisting of single base substitutions resulting in 16 amino acid replacements, one silent mutation causing a splicing defect, five nonsense codons, and four putative splicing defects. The location of these mutations is spread over the entire FAH gene, with a particular clustering between amino acid residues 230 and 250. The identification of these mutations in subpopulations and groups at high risk should help in the diagnosis of, and genetic counseling for, HTI. We describe all these 26 mutations reported so far and their implication in diagnosis and carrier detection. Hum Mutat 9:291–299, 1997. © 1997 Wiley‐Liss, Inc.