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

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

Research output: Contribution to journalArticleResearchpeer-review

6 Citations (Scopus)

Abstract

© 2016 Elsevier Inc. We have previously reported the whole genome genotyping analysis of 2 consanguineous siblings clinically diagnosed with early onset Alzheimer's disease (AD). 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 AD in these cases. We have now performed exome sequencing in one of these siblings and identified the potential cause of disease: the CTSF c.1243G>A:p.Gly415Arg mutation in homozygosity. Biallelic 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 AD.
Original languageEnglish
Pages (from-to)236.e1-236.e6
JournalNeurobiology of Aging
Volume46
DOIs
Publication statusPublished - 1 Oct 2016

Keywords

  • CTSF
  • Early onset Alzheimer's disease
  • Exome sequencing
  • Homozygosity
  • Kufs disease
  • Recessive

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