Abstract
Genetic characterisation of 15 French Canadian patients from different regions of the province of Quebec who were clinically diagnosed as USH1 reveals that carriers of the c.216G>A-allele haplotype belong to the early founders of both the Acadian and the Quebec population.
Highlights
Usher syndrome type 1 (USH1) is the leading cause of deafblindness
USH1C: novel mutations and a wide-spread founder mutation Mutation screening in exons 1, 2, 3, 5 and 6 of the USH1C gene revealed the previously reported exon 3 mutation c.216G>A
Despite the overall low prevalence of USH1C in most populations, c.238-239insC has been found in 14% and 12.5% of USH1 patients in the UK and Germany, respectively, which may be due to founder effects [15,18]
Summary
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. Usher syndrome (USH) is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction, and visual impairment due to retinitis pigmentosa It is the leading cause of deafblindness, with a general prevalence of 2 to 6.2 in 100,000 [1,2]. In a recent study on USH1 patients from the US and the UK, 39% of patients had mutations in myosin-7A (MYO7A/USH1B) or cadherin-23 (CDH23/USH1D), 11% had mutations in protocadherin-15 (PCDH15/USH1F), 7% had mutations in SANS (USH1G), and 7% had mutations in USH1C (non-Acadians) [11] These proportions are in line with most investigations of other populations where MYO7A is the most commonly mutated gene in USH1. In the Ashkenazi Jewish population and the Acadian population of the Southern United States, founder effects for USH1F and for USH1C, respectively, lead to locally high incidences of these genetic subtypes [12,13]
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