Exome sequencing in a consanguineous family clinically diagnosed with early onset Alzheimer’s disease identifies an homozygous CTSF mutation

Publication date: Available online 4 July 2016
Source:Neurobiology of Aging
Author(s): Jose Bras, Ruth Djaldetti, Ana Margarida Alves, Simon Mead, Lee Darwent, Alberto Lleo, Jose Luis Molinuevo, Rafael Blesa, Andrew Singleton, John Hardy, Jordi Clarimon, Rita Guerreiro
We have previously reported the whole genome genotyping analysis of two consanguineous siblings clinically diagnosed with early onset Alzheimer's disease. In this analysis we identified several large regions of homozygosity shared between both affected siblings, which we suggested could be candidate loci for a recessive genetic lesion underlying the early onset Alzheimer's disease in these cases. We have now performed exome sequencing in one of these siblings and identified the potential cause of disease: the CTSF c.G1243A:p.Gly415Arg mutation in homozygosity. Bi-allelic mutations in this gene have been shown to cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis with some cases resembling the impairment seen in Alzheimer's disease.



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