A novel heterozygous HTRA1 mutation in an Asian family with CADASIL-like disease.
J Clin Lab Anal
; 36(2): e24174, 2022 Feb.
Article
en En
| MEDLINE
| ID: mdl-34951056
ABSTRACT
BACKGROUND:
HTRA1 gene mutations are related to the pathogenesis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). However, heterozygous HTRA1 mutations at specific sites can also lead to rare autosomal dominant cerebral artery disease (CADASIL-like disease). To date, 28 heterozygous mutations in the HTRA1 gene have been reported to be related to CADASIL-like diseases. Only one case of this disease was caused by a heterozygous mutation of c.497G>T in exon 2 of the HTRA1 gene.METHODS:
In this case, we report on an Asian family with CADASIL-like disease caused by a heterozygous mutation of c.497G>T in exon 2 of the HTRA1 gene. The clinical and imaging characteristics of the proband were summarized, and gene mutations were verified by whole-exome sequencing (WES) and direct Sanger sequencing.RESULTS:
The result of the gene sequencing showed a heterozygous missense mutation at the c.497G>T locus of the HTRA1 gene in the proband of one sick family member, resulting in a change in amino acid (p.arg166leu).CONCLUSION:
This is the first reported pathogenic mutation at the c.497G>T locus of the HTRA1 gene in an Asian population. It provides an important theoretical basis for the specific gene-based diagnosis and treatment of CADASIL-like diseases.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Mutación Missense
/
Leucoencefalopatías
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Serina Peptidasa A1 que Requiere Temperaturas Altas
Límite:
Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
J Clin Lab Anal
Asunto de la revista:
TECNICAS E PROCEDIMENTOS DE LABORATORIO
Año:
2022
Tipo del documento:
Article
País de afiliación:
China