ArticleGenome biology2007
Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.
Article in Genome biology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Expanding the Genetic Landscape ofNeurology. Genetics · 2026Article
- Fine-scale genetic structure and rare variant frequencies.PloS one · 2024Article
- Advances in gene therapy hold promise for treating hereditary hearing loss.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Review
- Alternative splicing in shaping the molecular landscape of the cochlea.Frontiers in cell and developmental biology · 2023Review
- Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.BMC medical genomics · 2022Article
- Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.Communications biology · 2022Article
- Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.Investigative ophthalmology & visual science · 2022Article
- Usher Syndrome.Audiology research · 2022Review
- Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy.International journal of molecular sciences · 2021Review
- Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.Frontiers in genetics · 2020Review
- Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.Human mutation · 2019Article
- Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice.Behavioural brain research · 2018Article
- Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.3 Biotech · 2017Review
- A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.Scientific reports · 2017Article
- Non-coding RNAs as drug targets.Nature reviews. Drug discovery · 2017Review
- In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype.International journal of ophthalmology · 2016Article
- Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.Journal of translational medicine · 2015Article
- Targeted exon sequencing in Usher syndrome type I.Investigative ophthalmology & visual science · 2014Article
- Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness.Nature medicine · 2013Article
- Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.Molecular vision · 2012Article
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6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundUsher syndrome type 1 (USH1) is the leading cause of deafblindness. In most populations, many private mutations are distributed across the five known USH1 genes. We investigated patients from the French Canadian population of Quebec (approximately 6 million people) that descends from about 8,500 French settlers who colonized the St Lawrence River valley between 1608 and 1759. We hypothesized that founder mutations in USH1 genes exist in this population.
resultsWe have genetically characterized 15 patients from different regions of Quebec who were clinically diagnosed as USH1. Of these cases, 60% carried mutations of the USH1C gene, a genetic subtype that is rare outside the Acadian population. We have discovered a founder effect of the c.216G>A mutation, which has previously been designated the 'Acadian allele' because it accounts for virtually all Acadian USH1 cases. It represents 40% of disease alleles in Quebec, and a carrier of c.216G>A was identified in the general population. Mutations in other genes, except CDH23, are very rare.
conclusionBased on our findings, approximately 0.5% of congenitally deaf children in Quebec are at risk of developing retinal degeneration due to homozygosity for c.216G>A. Although the Acadians and French Canadians from Quebec are descended from French ancestors, they have always been considered genetically distinct. The genetic conditions common in Quebec are generally not found in Acadians, or they are due to different mutations. Our results, however, show that carriers of the c.216G>A allele haplotype belonged to the early founders of both the Acadian and the Quebec population.
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