Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.

Genome biology - 1 Jan 2007

Ebermann Inga, Lopez Irma, Bitner-Glindzicz Maria, Brown Carolyn, Koenekoop Robert Karel, Bolz Hanno Jörn

Abstract excerpt

BACKGROUND: Usher 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...

Topics

Adaptor Proteins, Signal Transducing
Alleles
Canada
Cell Cycle Proteins
Cohort Studies
Cytoskeletal Proteins
Founder Effect
France
Genetic Predisposition to Disease
Haplotypes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Heterozygote

Humans

Mutation

Quebec

Usher Syndromes

Source

Open in PubMed Open full text

Identifiers

PMID: 17407589
DOI: 10.1186/gb-2007-8-4-r47
PMCID: PMC1895989

Genes

CDH23

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.PMID 17407589Read ↗

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.Semantic proximity Read ↗

USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.Semantic proximity Read ↗

Population history and its impact on medical genetics in QuebecSemantic proximity Read ↗

Portrait of autosomal recessive diseases in the French‐Canadian founder population of Saguenay‐Lac‐Saint‐JeanSemantic proximity Read ↗

Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort.Semantic proximity Read ↗

The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders.Semantic proximity Read ↗

An Elevated Birth Prevalence of Fraser Syndrome in Quebec Linked To A Founder Pathogenic VariantSemantic proximity Read ↗

Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.Semantic proximity Read ↗

Fragmentation of the Québec population genetic pool (Canada): evidence from the genetic contribution of founders per region in the 17th and 18th centuries.Semantic proximity Read ↗

Hereditary disorders in the French Canadian population of Quebec. I. In search of founders.Semantic proximity Read ↗

Clinical variability and genetic heterogeneity within the Acadian Usher population.Semantic proximity Read ↗

Human Genetics: Lessons from Quebec PopulationsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.