ArticlePrenatal diagnosis2009
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.
Article in Prenatal diagnosis, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Guideline
- Machine-Readable Database for Genotype-Phenotype Analyses in Rare Diseases Using FKTN-related Congenital Muscular Dystrophies as a Prototype.Research square · 2026Article
- Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.Neurogenetics · 2024Article
- Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.PLoS genetics · 2018Article
- Very Early In-Utero Diagnosis of Walker-Warburg Phenotype: The Cutting Edge of Technology.Ultrasound international open · 2016Article
- Article
- Lens extrusion from Laminin alpha 1 mutant zebrafish.TheScientificWorldJournal · 2014Article
- Jewish genetic screening grows despite questions about breadth.Nature medicine · 2011Article
- Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.Neuromuscular disorders : NMD · 2009Article
Corrections and comments
- Erratum issued
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
objectiveWalker-Warburg syndrome (WWS) is a genetically heterogeneous congenital muscular dystrophy caused by abnormal glycosylation of alpha-dystroglycan (alpha-DG) that is associated with brain malformations and eye anomalies. The Fukutin (FKTN) gene, which causes autosomal recessively inherited WWS is most often associated with Fukuyama congenital muscular dystrophy in Japan. We describe the clinical features of four nonconsanguinous Ashkenazi Jewish families with WWS and identify the underlying genetic basis for WWS.
methodWe screened for mutations in POMGnT1, POMT1, POMT2, and FKTN, genes causing WWS, by dideoxy sequence analysis.
resultsWe identified an identical homozygous c.1167insA mutation in the FKTN gene on a common haplotype in all four families and identified 2/299 (0.7%) carriers for the c.1167insA mutation among normal American Ashkenazi Jewish adults.
conclusionThese data suggest that the c.1167insA FKTN mutation described by us is a founder mutation that can be used to target diagnostic testing and carrier screening in the Ashkenazi Jewish 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.