Diagnostic tests for the detection of inherited peripheral neuropathies
AssigneeVib Vzw
InventorsAlbena Jordanova, Magdalena Zimon, Jonathan Baets, Peter De Jonghe
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Abstract
The disclosure relates to the field of human genetics, particularly the field of peripheral neuropathy, particularly inherited peripheral neuropathy. Specifically, the disclosure relates to methods and materials to detect hereditary peripheral neuropathy, more particularly autosomal recessive Charcot-Marie-Tooth disease.
Claims17
An isolated polynucleotide coding for a mutant HINT1 polypeptide, said polynucleotide containing in comparison to the wild-type HINT1 encoding sequence set forth in SEQ ID NO:
- 1 one or more mutations selected from the mutations set forth in Table 1.
A method of detecting the presence or predisposition to a peripheral neuropathy in a human, the method comprising:
- detecting at least one mutation in the nucleotide sequence of SEQ ID NO:
- 1 in a tissue sample of the human,
- wherein said mutation results in the translation of a non-functional SEQ ID NO:
- 2 protein or results in reduced activity of SEQ ID NO:
- 2 protein in man and wherein the presence of a mutation in both alleles of SEQ ID NO:
- 1 diagnoses the human as having a peripheral neuropathy or a predisposition to peripheral neuropathy.
A diagnostic kit comprising:
- selected SEQ ID NO:
- 1 sequences, and
- selected control primer sequences.
A polynucleotide comprising:
- a fragment of SEQ ID NO:1 of sufficient length to act as a nucleic acid probe,
- wherein in comparison to SEQ ID NO:
- 1, at least one mutation is present in the polynucleotide, the mutation or mutations selected from the group of mutations consisting of those set forth in Table 1.
Dependencies are inferred from the claim text.