Sistermans E A, de Coo R F, van Beerendonk H M, Poll-The B T, Kleijer W J, van Oost B A
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
Eur J Hum Genet. 2000 Jul;8(7):557-60. doi: 10.1038/sj.ejhg.5200477.
Canavan disease is a severe progressive autosomal recessive disorder, which is characterised by spongy degeneration of the brain. The disease is caused by mutations in the aspartoacylase gene. Two different mutations were reported on 98% of the alleles of Ashkenazi Jewish patients, in which population the disease is highly prevalent. In non-Jewish patients of European origin, one mutation (914C > A) is found in 50% of the alleles, the other alleles representing all kinds of different mutations. We here describe the results of the mutation analysis in 17 European, non-Jewish patients. Ten different mutations were found, of which four had not been described before (H21P, A57T, R168H, P181T). A deletion of exon4, which until now had only been described once, was revealed in all five alleles of Turkish origin tested, indicating that this is a founder effect in the Turkish population.
卡纳万病是一种严重的进行性常染色体隐性疾病，其特征为大脑海绵状变性。该疾病由天冬氨酸酰基转移酶基因突变引起。在阿什肯纳兹犹太患者98%的等位基因上报道了两种不同的突变，在该人群中这种疾病非常普遍。在欧洲裔非犹太患者中，50%的等位基因发现一种突变（914C>A），其他等位基因代表各种不同的突变。我们在此描述了17名欧洲裔非犹太患者的突变分析结果。发现了十种不同的突变，其中四种以前未被描述过（H21P、A57T、R168H、P181T）。在所检测的所有五个土耳其裔等位基因中均发现外显子4缺失，此前该缺失仅被描述过一次，表明这是土耳其人群中的一种奠基者效应。
