Patent ID: 7670773
Filing Date: 2010-03-02
Classification: A61K,A61P,C07K,C12Q,G01N

Abstract:
1. A method of detecting Rett syndrome that is associated with a mutation or deletion in the human MECP2 gene comprising detecting the presence of a non-sense or frameshift mutation or a deletion within exon 1, or in the intron-exon boundary immediately adjacent to exon 1, of a nucleic acid sequence encoding the MeCP2E1 protein having the amino acid sequence of SEQ ID NO: 4 in a sample obtained from a human, wherein the sample nucleic acid sequence is compared to a control nucleic acid sequence and wherein the presence of a mutation or deletion in exon 1, or in the intron-exon boundary immediately adjacent to exon 1, of the sample nucleic acid sequence indicates that the human has Rett syndrome, wherein the mutation or deletion detected is selected from the group consisting of: (1) a deletion of 11 consecutive base pairs in nucleotides 38 to 54 of SEQ ID NO: 1, said deletion causing a truncation of the MeCP2E1 protein of SEQ ID NO: 4 after amino acid 36; (2) a deletion consisting of nucleotides 1-69 of exon 1 of SEQ ID NO: 1; (3) an adenine to thymine change at nucleotide position 8 of SEQ ID NO: 1; and (4) a deletion of a T, G or TG between nucleotide positions 69-71 of SEQ ID NO: 1.