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Clinical exome sequencing in dementias: a preliminary study.
Zalar, Bojan; Maver, Ales; Kovanda, Ana; Peterlin, Ana; Peterlin, Borut.
Afiliação
  • Zalar B; University Psychiatric Clinic Ljubljana, Studenec 48, 1260 Ljubljana, Slovenia, bojan.zalar@guest.arnes.si.
Psychiatr Danub ; 30(2): 216-219, 2018 Jun.
Article em En | MEDLINE | ID: mdl-29930232
BACKGROUND: Dementias are clinically and genetically heterogeneous group of neurodegenerative disorders. Often, dementias with genetic etiology are clinically indistinguishable from non-genetic ones. The aim of this retrospective study was to evaluate the yield of clinical exome sequencing in dementias, potentially associated with monogenic genetic predisposition. SUBJECTS AND METHODS: For this purpose 20 consecutive patients younger than 65 years were studied in the period from January 2014 to December 2017; 14 with the diagnosis of Frontotemporal dementia (FTD), 3 with early-onset Alzheimer disease (EOAD) and 3 with unspecified dementia. In addition to clinical exome sequencing including 57 genes associated with dementia, C9orf72 hexanucleotide expansion as tested in all patients. RESULTS: We found genetic etiology in 6 patients: 2 mutations in the PSEN1 gene (p.Pro264Ser and p.Phe105Cys) in the EOAD patients, C9orf72 expansion and MAPT (c.1920+16C>T), mutation in the FTD group of patients as well as MAPT (c.1920+16C>T) mutation and likely pathogenic mutation in the TYROBP mutation (p.Asp32Asn) in patients with unspecified diagnosis. CONCLUSIONS: Our preliminary results imply significant diagnostic yield in identifying rare genetic causes of dementia, combining comprehensive clinical exome sequencing and targeted C9orf72 expansion testing.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Demência / Demência Frontotemporal / Doença de Alzheimer / Sequenciamento do Exoma Tipo de estudo: Observational_studies / Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Demência / Demência Frontotemporal / Doença de Alzheimer / Sequenciamento do Exoma Tipo de estudo: Observational_studies / Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article