ArticleJournal of clinical laboratory analysis2022
A novel heterozygous HTRA1 mutation in an Asian family with CADASIL-like disease.
Article in Journal of clinical laboratory analysis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- Autosomal dominant inheritance of a heterozygous mutation in HTRA1: A case report and literature review.Medicine · 2026Review
- A case of coexisting heterozygous NOTCH3 and HTRA1 mutations in cerebral small vessel disease.Human genome variation · 2025Article
- CADASIL: A NOTCH3-associated cerebral small vessel disease.Journal of advanced research · 2024Review
- Progress in the Study of the Role and Mechanism of HTRA1 in Diseases Related to Vascular Abnormalities.International journal of general medicine · 2024Review
- Heterozygous Pathogenic and Likely Pathogenic SymptomaticInternational journal of general medicine · 2023Review
- A novel heterozygous HTRA1 mutation in an Asian family with CADASIL-like disease.Journal of clinical laboratory analysis · 2022Article
- Identified novel heterozygousFrontiers in genetics · 2022Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
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Abstract
backgroundHTRA1 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.
methodsIn 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.
resultsThe 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).
conclusionThis 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.
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