Patent ID: 7449291

Claim:
A method of screening a human subject to determine if said subject has a genetic predisposition to develop, or is suffering from, Charcot-Marie-Tooth neuropathy type 1C, said method comprising analyzing the nucleic acid sequence of a coding region of the SIMPLE gene selected from the group consisting of exon 1 (nucleotides 1 to 228 of SEQ ID NO:3), exon 2 (nucleotides 29,639 to 29,863 of SEQ ID NO:3), exon 3 (nucleotides 32,685 to 32,840 of SEQ ID NO:3) or exon 4 (nucleotides 36,629 to 37,775 of SEQ ID NO:3) in a human subject to determine whether a genetic mutation that co-segregates with Charcot-Marie-Tooth neuropathy type 1C is present in the nucleic acid sequence, wherein the presence of a genetic mutation in the coding region of the SIMPLE gene selected from the group consisting of exon 1 (nucleotides 1 to 228 of SEQ ID NO:3), exon 2 (nucleotides 29,639 to 29,863 of SEQ ID NO:3), exon 3 (nucleotides 32,685 to 32,840 of SEQ ID NO:3) or exon 4 (nucleotides 36,629 to 37,775 SEQ ID NO:3 that co-segregates with Charcot-Marie-Tooth neuropathy type 1C indicates that the human subject has a genetic predisposition to develop Charcot-Marie-Tooth neuropathy type 1C or is suffering from Charcot-Marie-Tooth neuropathy type 1C.