ReviewDisease models & mechanisms2024
Founder mutations and rare disease in the Arab world.
Review in Disease models & mechanisms, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Human genetic diversity across South Asian populations: A systematic review and meta-analysis.Medicine · 2025Pooled it
- An Ancient Founder GDF2 Variant Potentially Causes Semi-Dominant Non-Syndromic Pulmonary Arterial Hypertension.Clinical genetics · 2026Article
- Phenylketonuria in Saudi Arabia: An Overview of Diagnosis, Genetics, and Therapeutic Strategies.Biology · 2026Review
- Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project.Human genetics · 2026Article
- Genotypic and phenotypic spectrum of Galloway-Mowat syndrome in Kuwait.Global medical genetics · 2026Article
- Clinical Discovery and Molecular Analysis of Two Novel MSH2 Gene Mutations (p.Ala771Gly and p.Val797Gly) in Saudi Colorectal Cancer Patients: Potential Implications for Tumorigenesis.Health science reports · 2026Article
- A hypomorphic SRD5A2 haplotype with a potential founder effect: composed of common variants in individuals with 5α-reductase type 2 deficiency from South China.Biology of sex differences · 2026Article
- Whole Exome Sequencing Revealed Rare Variants in BRCA2, RAD51D, FANGC, CYP24A1 Genes in Breast/Ovarian Cancer Patients from a Small Buryat Ethnic Group.Asian Pacific journal of cancer prevention : APJCP · 2026Article
- Case Report: A novel homozygous splice-site variant in theFrontiers in immunology · 2026Article
- Rare diseases load through the study of a regional population.PLoS genetics · 2025Article
- Genomics of rare diseases in the Greater Middle East.Nature genetics · 2025Review
- Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.Genetics in medicine open · 2025Article
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Founder mutations are disease-causing variants that occur frequently in geographically or culturally isolated groups whose shared ancestor(s) carried the pathogenic variant. While some disease alleles may vanish from the genetic pool due to natural selection, variants with weaker effects may survive for a long time, thereby enhancing the prevalence of some rare diseases. These are predominantly autosomal recessive diseases but can also be autosomal dominant traits with late-onset or mild phenotypes. Cultural practices, such as endogamy and consanguinity, in these isolated groups lead to higher prevalence of such rare diseases compared to the rest of the population and worldwide. In this Perspective, we define population isolates and the underlying genetic mechanisms for accumulating founder mutations. We also discuss the current and potential scientific, clinical and public-health implications of studying founder mutations in population isolates around the world, with a particular focus on the Arab population.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.