Mutation within the connexin 26 gene responsible for prelingual non-syndromic deafness and method of detection
AssigneeInstitut Pasteur
InventorsChristine Petit, Françoise Denoyelle-Gryson, Dominique Weil, Sandrine Marlin-Duvernois, Jean-Luc Guesdon
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Abstract
A purified polynucleotide having a chain of nucleotides corresponding to a mutated sequence, which in wild-type form encodes a polypeptide implicated in hereditary sensory defect, wherein the mutated purified polynucleotide presents a mutation responsible for prelingual non-syndromic deafness selected from the group consisting of a specific deletion of at least one nucleotide.
Claims12
A purified polynucleotide comprising a nucleotide sequence containing a mutation of a wild-type connexin 26 gene, wherein the mutation comprises a deletion of a nucleotide from nucleotide 30 to nucleotide 32.
Dependencies are inferred from the claim text.