Polynucleotides for detecting a frequent mutation responsible for prelingual non-syndromic deafness in the connexin 26 gene
Inventor: Christine PETIT et al.
Description of invention:
Profound or severe prelingual deafness affects one child in a thousand in developed countries. It is a major handicap as it impedes language acquisition. According to studies performed in a population of children with non-syndromic prelingual deafness, and in whom an obvious environmental cause has been excluded, it is estimated that up to two-thirds of cases have a genetic basis.
The present invention concerns a mutation responsible for autosomal prelingual non-syndromic deafness and a method for the detection of this hereditary sensory defect for homozygous and heterozygous individuals. The invention concerns more particularly a specific deletion of one nucleotide in the connexin 26 (Cx26) gene and especially in a guanosine rich region, notably between the nucleotide 27 and 32 which is capable of inducing a loss of activity of the corresponding protein in comparison to the wild type one. Connexin 26 mutations accounts for about half of the cases of congenital or prelingual deafness, and this particular mutation for 80% of all deafness related to connexin 26 mutations.
This invention is thus intended to supply a purified polynucleotide corresponding to a mutated sequence in which the mutated form encodes a polypeptide implicated in hereditary sensory defect. The invention also supplies oligonucleotides consisting of 8 to 300 consecutive nucleotides of the said mutated purified polynucleotide that may be used as a primer or as a probe. These tools will be useful for the in-vitro detection of Cx26 mutations.
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