患有脑腱性黄瘤病的日本三胞胎对于编码甾醇27-羟化酶（精氨酸441色氨酸）的突变基因是纯合子。
Japanese triplets with cerebrotendinous xanthomatosis are homozygous for a mutant gene coding for the sterol 27-hydroxylase (Arg441Trp).
作者信息
Nagai Y, Hirano M, Mori T, Takakura Y, Tamai S, Ueno S
机构信息
Department of Medical Genetics, Nara Medical University, Nara, Japan.
出版信息
Neurology. 1996 Feb;46(2):571-4. doi: 10.1212/wnl.46.2.571.
We present the first case of triplets with cerebrotendinous xanthomatosis (CTX). A C-to-T base change identified in the genomic DNA and cDNA encoding the sterol 27-hydroxylase led to replacement of arginine by tryptophan at position 441 (Arg441Trp) in the triplets. The triplets were homozygous and their mother was heterozygous for this mutant gene. The triplets exhibited an identical phenotypic expression, which was different from that of a sporadic CTX case with the same mutation.
我们报告了首例患有脑腱性黄瘤病（CTX）的三胞胎病例。在编码甾醇27-羟化酶的基因组DNA和cDNA中鉴定出的C到T碱基变化，导致三胞胎中第441位的精氨酸被色氨酸取代（Arg441Trp）。三胞胎为该突变基因的纯合子，其母亲为杂合子。三胞胎表现出相同的表型表达，这与具有相同突变的散发性CTX病例不同。
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