ArticleBMC medical genetics2012
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.
Article in BMC medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 41 citations in OpenAlex.
- Using the ancestral recombination graph to study the history of rare variants in founder populations.American journal of human genetics · 2025Article
- Comparison of Caregiver-Reported Dietary Intake Methods in Zellweger Spectrum Disorder.Nutrients · 2025Article
- Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family.The application of clinical genetics · 2025Article
- Successes of an innovative population-based carrier screening program for 4 prevalent recessive hereditary diseases in a population with a founder effect in Quebec, Canada.Genetics in medicine open · 2025Article
- Fatty Acid Metabolism in Peroxisomes and Related Disorders.Advances in experimental medicine and biology · 2024Review
- Zellweger's Syndrome With PEX6 Gene Mutation in Mixteco Neonates Due to Possible Founder Effect.Cureus · 2023Article
- First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean's founder population.Human genetics · 2022Article
- Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.Journal of medical genetics · 2021Review
- A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Article
- Review
- Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Exome sequencing identifiesMolecular vision · 2020Article
- Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Two novel mutations ofAnnals of translational medicine · 2019Article
- Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.American journal of human genetics · 2017Article
- Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.Journal of applied genetics · 2017Article
- A novelHuman genome variation · 2017Article
- Peroxisome biogenesis disorders.Translational science of rare diseases · 2016Article
- Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.Molecular genetics and metabolism · 2016Review
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Authors and funding
12 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundZellweger syndrome (ZS) is a peroxisome biogenesis disorder due to mutations in any one of 13 PEX genes. Increased incidence of ZS has been suspected in French-Canadians of the Saguenay-Lac-St-Jean region (SLSJ) of Quebec, but this remains unsolved.
methodsWe identified 5 ZS patients from SLSJ diagnosed by peroxisome dysfunction between 1990-2010 and sequenced all coding exons of known PEX genes in one patient using Next Generation Sequencing (NGS) for diagnostic confirmation.
resultsA homozygous mutation (c.802_815del, p.[Val207_Gln294del, Val76_Gln294del]) in PEX6 was identified and then shown in 4 other patients. Parental heterozygosity was confirmed in all. Incidence of ZS was estimated to 1 in 12,191 live births, with a carrier frequency of 1 in 55. In addition, we present data suggesting that this mutation abolishes a SF2/ASF splice enhancer binding site, resulting in the use of two alternative cryptic donor splice sites and predicted to encode an internally deleted in-frame protein.
conclusionWe report increased incidence of ZS in French-Canadians of SLSJ caused by a PEX6 founder mutation. To our knowledge, this is the highest reported incidence of ZS worldwide. These findings have implications for carrier screening and support the utility of NGS for molecular confirmation of peroxisomal disorders.
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