Three cases of cerebraltendinous xanthomatosis caused by compound heterozygous mutation of CYP27A1 gene
10.3760/cma.j.cn113694-20210310-00175
- VernacularTitle:CYP27A1基因复合杂合突变致脑腱黄瘤病三例
- Author:
Hongrui MA
1
;
Suobin WANG
;
Junhua LIANG
;
Jing LIU
;
Wantong YU
;
Hua LIN
Author Information
1. 首都医科大学宣武医院神经内科，北京 100053
- Keywords:
Cerebrotendinous xanthomatosis;
CYP27A1 gene;
Exon;
Intron
- From:
Chinese Journal of Neurology
2021;54(11):1176-1181
- CountryChina
- Language:Chinese
-
Abstract:
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive genetic disease caused by mutation of CYP27A1 gene. This article reported three cases with clinical phenotypes of CTX and CYP27A1 gene mutation and analyzed the pedigree with a literature review. All the three CTX cases had c.379C>T (p.Arg127Trp) missense mutation on exon 2 of CYP27A1 gene. They all had compound heterozygous mutation and two cases had new type of exon and intron compound mutation. This article enriched the types of CYP27A1 gene mutations in CTX patients. The primers of CYP27A1 gene should also cover more gene sequences including intron regions.
