PMC:1892049 / 1343-2120 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/1892049","sourcedb":"PMC","sourceid":"1892049","source_url":"http://www.ncbi.nlm.nih.gov/pmc/1892049","text":"Author Summary\n\nWe have identified a spontaneous in-frame deletion mutation in the gene Itpr1 that causes a recessive movement disorder in mice. In an attempt to define whether any similar disease occurs in humans we performed a literature search for diseases linked to the human chromosomal region containing ITPR1. We identified the disease spinocerebellar ataxia 15 as linked to this region. High-density genomic analysis of affected members from three families revealed that disease in these patients was caused by deletion of a large portion of the region containing ITPR1. We show here that this mutation results in a dramatic reduction in ITPR1 in cells from these patients. These data show convincingly that ITPR1 deletion underlies spinocerebellar ataxia 15 in humans.","divisions":[{"label":"title","span":{"begin":0,"end":14}}],"tracks":[]}