Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
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DOI：
10.1053/ejpn.1999.0256
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发表时间：
2000-01-01
期刊：
影响因子：
--
通讯作者：
Matalon, R
中科院分区：
文献类型：
--
作者：
Rady, P L;Penzien, J M;Matalon, R
Canavan病是一种严重的进行性常染色体隐性遗传性白质营养不良症。Canavan病更多发生在带有天冬氨酸酯酶(ASPA)基因两个主要突变的德系犹太人中。这种疾病在非犹太人中较少发生，突变随机存在于ASPA基因上，其中一个突变在欧洲血统的患者中更常见。在目前的研究中，我们报告了一个新的纯合子供体剪接点突变，内含子4在一个有土耳其血统的表亲父母的孩子中。
Canavan disease is a severe, progressive autosomal recessive neurodegenerative leukodystrophy. Canavan disease occurs more frequently among Ashkenazi Jewish individuals with two predominant mutations in the aspartoacylase (ASPA) gene. The disease is less frequent in non-Jewish individuals and the mutations randomly reside on the ASPA gene, with one mutation seen more frequently among patients of European extraction. In the present study we report a novel homozygous donor splice site mutation of intron 4 in a child with first-cousin parents of Turkish extraction.