Verrips A, Steenbergen-Spanjers G C, Luyten J A, van den Heuvel L P, Keyser A, Gabreëls F J, Wevers R A
Department of Neurology, University Hospital Nijmegen, The Netherlands.
Hum Genet. 1996 Dec;98(6):735-7. doi: 10.1007/s004390050294.
This report concerns two new mutations in the sterol 27-hydroxylase gene in two patients with cerebrotendinous xanthomatosis (CTX). In a Surinam-Creole patient (patient A), a G deletion on position cDNA 546/547 in exon 3 led to a frameshift and the introduction of a premature termination codon. In a Dutch patient (patient B), a C-->T transition at position 496 in exon 3 also led to a premature termination codon. Patient A was homozygous for the mutation, whereas patient B was compound heterozygous, a C-->T transition also being found in exon 6 at position 1204. The two new mutations were confirmed by restriction analysis with the restriction enzymes FokI and MaeI, respectively.
本报告涉及两例脑腱黄瘤病（CTX）患者中固醇27-羟化酶基因的两个新突变。在一名苏里南克里奥尔人患者（患者A）中，外显子3中cDNA 546/547位置的G缺失导致移码并引入了一个提前终止密码子。在一名荷兰患者（患者B）中，外显子3中496位置的C→T转换也导致了一个提前终止密码子。患者A的该突变是纯合的，而患者B是复合杂合的，在外显子6的1204位置也发现了一个C→T转换。分别用限制性内切酶FokI和MaeI进行限制性分析证实了这两个新突变。
