title: Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family.
abstract: Triggering receptor expressed on myeloid cells 2 (TREM2) homozygous mutations cause Nasu-Hakola disease, an early-onset recessive form of dementia preceded by bone cysts and fractures. The same type of mutations has recently been shown to cause frontotemporal dementia (FTD) without the presence of any bone phenotype. Here, we further confirm the association of TREM2 mutations with FTD-like phenotypes by reporting the first compound heterozygous mutation in a Turkish family.
authors.affiliation: Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK. Electronic address: r.guerreiro@ucl.ac.uk.
authors.forename: Rita
authors.initials: R
authors.lastname: Guerreiro
authors.forename: Basar
authors.initials: B
authors.lastname: Bilgic
authors.forename: Gamze
authors.initials: G
authors.lastname: Guven
authors.forename: José
authors.initials: J
authors.lastname: Brás
authors.forename: Jonathan
authors.initials: J
authors.lastname: Rohrer
authors.forename: Ebba
authors.initials: E
authors.lastname: Lohmann
authors.forename: Hasmet
authors.initials: H
authors.lastname: Hanagasi
authors.forename: Hakan
authors.initials: H
authors.lastname: Gurvit
authors.forename: Murat
authors.initials: M
authors.lastname: Emre
mesh_terms: D000328:Adult; D005260:Female; D057180:Frontotemporal Dementia / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008060:Lipodystrophy / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000235:genetics; D010641:Phenotype; D011971:Receptors, Immunologic / Q000235:genetics*; D013344:Subacute Sclerosing Panencephalitis / Q000235:genetics; D014057:Tomography, X-Ray Computed; D014421:Turkey
chemical_list: D008562:Membrane Glycoproteins; D011971:Receptors, Immunologic; C498715:TREM2 protein, human
keywords: Compound heterozygous; Frontotemporal dementia; Nasu-Hakola; TREM2