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Tytuł pozycji:

Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency.

Tytuł :
Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency.
Autorzy :
Haliloglu G; From the Departments of Pediatric Neurology (G.H., B.S., H.T.), Neurology (C.T.), Pediatric Hematology (B.T., M.C.), and Radiology (K.K.O.), Hacettepe University Ankara, Turkey; Unité Mixte de Recherche (UMR)-986 (J. Maluenda, J. Melki), Inserm and University Paris Sud; Hematology Laboratory (C.A., V.P.), AP-HP, CHU Bicêtre, France; and Centro Nacional de Análisis Genómico (I.G.), Barcelona, Spain.
Maluenda J; From the Departments of Pediatric Neurology (G.H., B.S., H.T.), Neurology (C.T.), Pediatric Hematology (B.T., M.C.), and Radiology (K.K.O.), Hacettepe University Ankara, Turkey; Unité Mixte de Recherche (UMR)-986 (J. Maluenda, J. Melki), Inserm and University Paris Sud; Hematology Laboratory (C.A., V.P.), AP-HP, CHU Bicêtre, France; and Centro Nacional de Análisis Genómico (I.G.), Barcelona, Spain.
Sayinbatur B; From the Departments of Pediatric Neurology (G.H., B.S., H.T.), Neurology (C.T.), Pediatric Hematology (B.T., M.C.), and Radiology (K.K.O.), Hacettepe University Ankara, Turkey; Unité Mixte de Recherche (UMR)-986 (J. Maluenda, J. Melki), Inserm and University Paris Sud; Hematology Laboratory (C.A., V.P.), AP-HP, CHU Bicêtre, France; and Centro Nacional de Análisis Genómico (I.G.), Barcelona, Spain.
Aumont C; From the Departments of Pediatric Neurology (G.H., B.S., H.T.), Neurology (C.T.), Pediatric Hematology (B.T., M.C.), and Radiology (K.K.O.), Hacettepe University Ankara, Turkey; Unité Mixte de Recherche (UMR)-986 (J. Maluenda, J. Melki), Inserm and University Paris Sud; Hematology Laboratory (C.A., V.P.), AP-HP, CHU Bicêtre, France; and Centro Nacional de Análisis Genómico (I.G.), Barcelona, Spain.
Temucin C; From the Departments of Pediatric Neurology (G.H., B.S., H.T.), Neurology (C.T.), Pediatric Hematology (B.T., M.C.), and Radiology (K.K.O.), Hacettepe University Ankara, Turkey; Unité Mixte de Recherche (UMR)-986 (J. Maluenda, J. Melki), Inserm and University Paris Sud; Hematology Laboratory (C.A., V.P.), AP-HP, CHU Bicêtre, France; and Centro Nacional de Análisis Genómico (I.G.), Barcelona, Spain.
Tavil B; From the Departments of Pediatric Neurology (G.H., B.S., H.T.), Neurology (C.T.), Pediatric Hematology (B.T., M.C.), and Radiology (K.K.O.), Hacettepe University Ankara, Turkey; Unité Mixte de Recherche (UMR)-986 (J. Maluenda, J. Melki), Inserm and University Paris Sud; Hematology Laboratory (C.A., V.P.), AP-HP, CHU Bicêtre, France; and Centro Nacional de Análisis Genómico (I.G.), Barcelona, Spain.
Cetin M; From the Departments of Pediatric Neurology (G.H., B.S., H.T.), Neurology (C.T.), Pediatric Hematology (B.T., M.C.), and Radiology (K.K.O.), Hacettepe University Ankara, Turkey; Unité Mixte de Recherche (UMR)-986 (J. Maluenda, J. Melki), Inserm and University Paris Sud; Hematology Laboratory (C.A., V.P.), AP-HP, CHU Bicêtre, France; and Centro Nacional de Análisis Genómico (I.G.), Barcelona, Spain.
Oguz KK; From the Departments of Pediatric Neurology (G.H., B.S., H.T.), Neurology (C.T.), Pediatric Hematology (B.T., M.C.), and Radiology (K.K.O.), Hacettepe University Ankara, Turkey; Unité Mixte de Recherche (UMR)-986 (J. Maluenda, J. Melki), Inserm and University Paris Sud; Hematology Laboratory (C.A., V.P.), AP-HP, CHU Bicêtre, France; and Centro Nacional de Análisis Genómico (I.G.), Barcelona, Spain.
Gut I; From the Departments of Pediatric Neurology (G.H., B.S., H.T.), Neurology (C.T.), Pediatric Hematology (B.T., M.C.), and Radiology (K.K.O.), Hacettepe University Ankara, Turkey; Unité Mixte de Recherche (UMR)-986 (J. Maluenda, J. Melki), Inserm and University Paris Sud; Hematology Laboratory (C.A., V.P.), AP-HP, CHU Bicêtre, France; and Centro Nacional de Análisis Genómico (I.G.), Barcelona, Spain.
Picard V; From the Departments of Pediatric Neurology (G.H., B.S., H.T.), Neurology (C.T.), Pediatric Hematology (B.T., M.C.), and Radiology (K.K.O.), Hacettepe University Ankara, Turkey; Unité Mixte de Recherche (UMR)-986 (J. Maluenda, J. Melki), Inserm and University Paris Sud; Hematology Laboratory (C.A., V.P.), AP-HP, CHU Bicêtre, France; and Centro Nacional de Análisis Genómico (I.G.), Barcelona, Spain.
Melki J; From the Departments of Pediatric Neurology (G.H., B.S., H.T.), Neurology (C.T.), Pediatric Hematology (B.T., M.C.), and Radiology (K.K.O.), Hacettepe University Ankara, Turkey; Unité Mixte de Recherche (UMR)-986 (J. Maluenda, J. Melki), Inserm and University Paris Sud; Hematology Laboratory (C.A., V.P.), AP-HP, CHU Bicêtre, France; and Centro Nacional de Análisis Genómico (I.G.), Barcelona, Spain.
Topaloglu H; From the Departments of Pediatric Neurology (G.H., B.S., H.T.), Neurology (C.T.), Pediatric Hematology (B.T., M.C.), and Radiology (K.K.O.), Hacettepe University Ankara, Turkey; Unité Mixte de Recherche (UMR)-986 (J. Maluenda, J. Melki), Inserm and University Paris Sud; Hematology Laboratory (C.A., V.P.), AP-HP, CHU Bicêtre, France; and Centro Nacional de Análisis Genómico (I.G.), Barcelona, Spain. .
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Źródło :
Neurology [Neurology] 2015 Mar 24; Vol. 84 (12), pp. 1220-4. Date of Electronic Publication: 2015 Feb 25.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Język :
English
Imprint Name(s) :
Publication: Hagerstown, MD : Lippincott Williams & Wilkins
Original Publication: Minneapolis.
MeSH Terms :
Anemia, Hemolytic/*genetics
Anemia, Hemolytic/*physiopathology
CD59 Antigens/*genetics
Hemoglobinuria/*genetics
Hemoglobinuria/*physiopathology
Adolescent ; Age of Onset ; Anemia, Hemolytic/complications ; Autoimmune Diseases of the Nervous System/etiology ; Autoimmune Diseases of the Nervous System/genetics ; Child ; Child, Preschool ; Female ; Hemoglobinuria/complications ; Hemolysis/genetics ; Humans ; Male ; Mutation, Missense ; Pedigree ; Polymorphism, Single Nucleotide ; Stroke/etiology ; Stroke/genetics ; Turkey
Substance Nomenclature :
0 (CD59 Antigens)
101754-01-2 (CD59 protein, human)
SCR Disease Name :
CD59 Deficiency
Entry Date(s) :
Date Created: 20150227 Date Completed: 20150522 Latest Revision: 20171116
Update Code :
20210623
DOI :
10.1212/WNL.0000000000001391
PMID :
25716358
Czasopismo naukowe
Objective: To identify the underlying etiology of 3 patients in a multiplex family with strokes, chronic immune-mediated peripheral neuropathy, and hemolysis. All had onset in infancy.
Methods: We performed genome-wide linkage analysis followed by whole exome sequencing (WES) in the proband, Sanger sequencing, and segregation analysis of putative mutations. In addition, we conducted flow cytometry studies to assess CD59 expression.
Results: In a 2-generation-3-affected family with early-onset immune-mediated axonal neuropathy, cerebrovascular event both in the anterior and posterior circulation, and chronic Coombs-negative hemolysis, we detected CD59 deleterious mutation as the underlying cause. Linkage analysis and homozygosity mapping using single nucleotide polymorphism (SNP) microarrays in the family followed by WES in one index case allowed identification of a homozygous missense mutation in the CD59 gene (c.A146T:p.Asp49Val). Sanger sequencing validated the mutation, showing cosegregation with the disease phenotype. Flow cytometry using blood cells in the 3 patients showed a lack of CD59 expression at the cell membrane compared to control and CD55 labeling.
Conclusion: We added to the knowledge base about inherited CD59 deficiency.
(© 2015 American Academy of Neurology.)

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