Neurol Genet 2021 Oct 8;7(5):e609. Epub 2021 Sep 8.
Department of Neurology and CNR-MAJ (L.G., D.W.), Normandie University, UNIROUEN, Inserm U1245, CHU Rouen, CIC-CRB1404, F 76000; Department of Genetics and CNR-MAJ (K.C., S.R., N.L.M., A.R.-L., D.C., G.N.), Normandie University, UNIROUEN, Inserm U1245 and CHU Rouen, F 76000; Department of Neurology (B.C., M.F.), Lyon University Hospital; Department of Neurology (O.M.), Grenoble University Hospital; Department of Histology (J.B.), Grenoble University Hospital; AP-HP (M.M., T.C., E.T.-L.), Groupe Hospitalier Saint-Louis Lariboisière-Fernand-Widal, Service de Génétique Moléculaire Neurovasculaire, INSERM UMR 1141, NeuroDiderot,Université de Paris; Department of Histology Embryology and Cytogenetics (E.P.), Jean Verdier Hospital; Paris 13 University (E.P.), Sorbonne Paris Cité, UFR SMBH Bobigny; and PROTECT (E.P.), INSERM, Paris Diderot University, Bondy, France.
Background And Objective: To report a triplication of the amyloid-β precursor protein () locus along with relative messenger RNA (mRNA) expression in a family with autosomal dominant early-onset cerebral amyloid angiopathy (CAA) and Alzheimer disease (AD).
Methods: Four copies of the gene were identified by quantitative multiplex PCR of short fluorescent fragments, fluorescent in situ hybridization (FISH), and array comparative genomic hybridization. mRNA levels were assessed using reverse-transcription-digital droplet PCR in the proband's whole blood and compared with 10 controls and 9 duplication carriers. Read More