脑黄瘤病（CTX）是一种常染色体隐性遗传脂质贮积症，与CYP27A1基因突变相关，以前没有检查过台湾CTX的遗传特征。
我们报道了一个新的CTX家族，该家族在CYP27A1基因中具有新的突变，并分析了台湾CTX的临床和分子遗传特征。
对来自新的CTX家族的两个兄弟姐妹和其他7例报道的台湾CTX患者的临床和分子遗传特征进行分析。使用构成怀疑指数（SI）的指标记录入选的CTX患者的临床特征。
新的CTX家族中的两个兄弟姐妹在CTX诊断时的年龄是30多岁，和主要的精神病学特征。两个兄弟姐妹在CYP27A1基因中都有复合杂合剪接突变，包括外显子2中的一个突变（c.435G>T，隐蔽剪接位点）和内含子7中的一个突变（c.1264A>G，规范剪接位点)。台湾的CTX患者均未在儿童或青少年时期确诊,9名台湾CTX患者最常见的临床特征是肌腱黄色瘤，其次是共济失调和/或痉挛性轻瘫，磁共振成像中的齿状核信号交替，智力障碍和/或精神障碍，和多发性神经病。台湾人群中CYP27A1基因的突变最常见于外显子2，其次是外显子8和内含子7。除了一名SI评分为100的CTX患者外，在研究CYP27A1基因和诊断之前，SI评分范围为300至400。
我们报道了两名台湾CTX兄弟姐妹，他们在CYP27A1中具有复合杂合突变。外显子2和8以及内含子7是台湾CTX突变的热点。在台湾，CTX的诊断通常是延迟的，并且根据统计学估计可能被低估。早期识别和基因诊断可能对CTX患者有帮助，因为早期治疗可以减少胆留醇的积累并减缓疾病进展。
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder associated with mutations in the CYP27A1 gene, and the genetic features of CTX in
Taiwanese have not been examined before.
We report a new CTX family with a novel mutation in the CYP27A1 gene and analyze the clinical and molecular genetic features of CTX in Taiwan.
The clinical and molecular genetic features of the two siblings from the new CTX family and the other 7 reported
Taiwanese CTX patients were included for analysis. The clinical features of the enrolled CTX patients were recorded using the indicators that make up the suspicion index (SI).
The age at CTX diagnosis of the two siblings in the new CTX family were in late 30s, and predominantly psychiatric features. Both siblings had compound heterozygous splicing mutations in the CYP27A1 gene, including one mutation in exon 2 (c.435G>T, cryptic splice site) and one mutation in intron 7 (c.1264A>G, canonical splice site). None of the CTX patients in Taiwan were diagnosed during childhood or adolescence, and the most common clinical features of the 9 Taiwanese CTX patients were tendinous xanthomas, followed by ataxia and/or spastic paraparesis, dentate nuclei signal alternation at magnetic resonance imaging, intellectual disability and/or psychiatric disturbance, and polyneuropathy. Mutations in the CYP27A1 gene in the
Taiwanese population were most commonly observed in exon 2, followed by exon 8 and intron 7. Except for one CTX patient who had an SI score of 100, the SI scores ranged from 300 to 400 before the study of the CYP27A1 gene and diagnosis.
We reported two
Taiwanese CTX siblings who had compound heterozygous mutations in CYP27A1. Exons 2 and 8 and intron 7 are the hotspots for
Taiwanese CTX mutations. The diagnosis of CTX in Taiwan is usually delayed and is probably under-recognized based on statistical estimations. Early identification and genetic diagnosis may be helpful to CTX patients because early treatment can reduce the accumulation of cholestanol and slow disease progression.
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