Three cases of cerebraltendinous xanthomatosis caused by compound heterozygous mutation of CYP27A1 gene / 中华神经科杂志
Chinese Journal of Neurology
;
(12): 1176-1181, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-911853
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.
Texto completo:
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Índice:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Chinese Journal of Neurology
Año:
2021
Tipo del documento:
Artículo
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