Identification of the novel genes responsible for hereditary spastic paraplegias

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We attempted to identify the causative gene mutations for the four families that have suffered from autosomal recessive hereditary spastic paraplegias (ARHSP). Using homozygosity mapping and exome sequencing, we could isolate a homozygous nonsense mutation in the responsible gene, C12orf65, in one complicated ARHSP family. HUGO assigned this type of ARHSP as SPG55. We also detected a novel homozygous missense mutation of the LYST gene in another complicated ARHSP family.We also have investigated the responsive genes in two pure ARHSP families by homozygosity mapping and exome sequencing. We identified two homozygous single nucleotide variants of two genes in the two families. We are verifying whether these variants are the causative mutations or not.