Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.

Autor: Boczek NJ; Center for Individualized Medicine Mayo Clinic Rochester Minnesota USA., Sigafoos AN; Center for Individualized Medicine Mayo Clinic Rochester Minnesota USA; Department of Biochemistry and Molecular Biology Mayo Clinic Rochester Minnesota USA., Zimmermann MT; Department of Biomedical Informatics Mayo Clinic Rochester Minnesota USA., Maus RL; Mayo Graduate School and the Department of Immunology Mayo Clinic Rochester Minnesota USA., Cousin MA; Center for Individualized Medicine Mayo Clinic Rochester Minnesota USA., Blackburn PR; Center for Individualized Medicine Mayo Clinic Rochester Minnesota USA., Urrutia R; Department of Biochemistry and Molecular Biology Mayo Clinic Rochester Minnesota USA; Department of Biophysics and Medicine Mayo Clinic Rochester Minnesota USA., Clark KJ; Center for Individualized Medicine Mayo Clinic Rochester Minnesota USA; Department of Biochemistry and Molecular Biology Mayo Clinic Rochester Minnesota USA., Patterson MC; Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA; Departments of Neurology and Pediatrics Mayo Clinic Rochester Minnesota USA., Wick MJ; Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA; Department of Obstetrics and Gynecology Mayo Clinic Rochester Minnesota USA., Klee EW; Center for Individualized Medicine Mayo Clinic Rochester Minnesota USA; Department of Biomedical Informatics Mayo Clinic Rochester Minnesota USA; Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA.
Jazyk: angličtina
Zdroj: Clinical case reports [Clin Case Rep] 2016 Aug 15; Vol. 4 (9), pp. 885-95. Date of Electronic Publication: 2016 Aug 15 (Print Publication: 2016).
DOI: 10.1002/ccr3.655
Abstrakt: A de novo GFAP variant, p.R376W, was identified in a child presenting with hypotonia, developmental delay, and abnormal brain MRI. Following the 2015 ACMG variant classification guidelines and the functional studies showing protein aggregate formation in vitro, p.R376W should be classified as a pathogenic variant, causative for Alexander disease.
Databáze: MEDLINE
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