ArticleJournal of human genetics2020
The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago.
Article in Journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 15 citations in OpenAlex.
- Beneficial bystander-enhanced cryptic splice rescue of cardiac-type Fabry GLA IVS4+919G>A by adenine base editing in patient fibroblasts.Gene therapy · 2026Article
- A puzzling case of left ventricular hypertrophy in an elderly man.Journal of geriatric cardiology : JGC · 2026Article
- Successful experience with high-risk and family screening for Fabry disease in Ninghai County, Zhejiang Province, Eastern China: genotype‒phenotype analysis of the GLA IVS4 + 919G > A variant.BMC medical genomics · 2026Article
- The role of quantitative cardiovascular MRI and late gadolinium enhancement patterns in differentiating late-onset Anderson-Fabry disease (c.640-801G > A) from hypertrophic cardiomyopathy: a case-control study.International journal of cardiology. Heart & vasculature · 2026Article
- Invention of an oral medication for cardiac Fabry disease caused by RNA mis-splicing.Science advances · 2025Article
- Screening for Fabry disease in patients with left ventricular hypertrophy in China: A multicentre and prospective study.ESC heart failure · 2024Article
- Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders.Molecular omics · 2022Review
- The Aldehyde Dehydrogenase ALDH2*2 Allele, Associated with Alcohol Drinking Behavior, Dates Back to Prehistoric Times.Biomolecules · 2021Article
- High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME).Journal of clinical medicine · 2021Article
- Fabry Disease and the Heart: A Comprehensive Review.International journal of molecular sciences · 2021Review
- A Founder Pathogenic Variant ofFrontiers in genetics · 2021Article
- Mono-symptomatic Fabry disease in a population with mild-to-moderate left ventricular hypertrophy.Molecular genetics and metabolism reports · 2020Article
- Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy.PloS one · 2020Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Fabry disease-causing mutation, the GLA IVS4+919G>A (designated GLA IVS4), is very prevalent in patients with hypertrophic cardiomyopathy in Taiwan. This X-linked mutation has also been found in patients in Kyushu, Japan and Southeast Asia. To investigate the age and the possible ancestral origin of this mutation, a total of 33 male patients with the GLA IVS4+919G>A mutation, born in Taiwan, Japan, Singapore, Malaysia, Vietnam, and the Fujian and Guangdong provinces of China, were studied. Peripheral bloods were collected, and the Ilumina Infinium CoreExome-24 microarray was used for dense genotyping. A mutation-carrying haplotype was discovered which was shared by all 33 patients. This haplotype does not exist in 15 healthy persons without the mutation. Rather, a wide diversity of haplotypes was found in the vicinity of the mutation site, supporting the existence of a single founder of the GLA IVS4 mutation. The age of the founder mutation was estimated by the lengths of the mutation-carrying haplotypes based on the linkage-disequilibrium decay theory. The first, second, and third quartile of the age estimates are 800.7, 922.6, and 1068.4 years, respectively. We concluded that the GLA IVS4+919G>A mutation originated from a single mutational event that occurred in a Chinese chromosome more than 800 years ago.
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