Open AccessFunctional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic
Author(s) -
Boczek Nicole J.,
Sigafoos Ashley N.,
Zimmermann Michael T.,
Maus Rachel L.,
Cousin Margot A.,
Blackburn Patrick R.,
Urrutia Raul,
Clark Karl J.,
Patterson Marc C.,
Wick Myra J.,
Klee Eric W.
Publication year - 2016
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.655
Subject(s) - medicine , hypotonia , disease , neurology , pediatrics , bioinformatics , psychiatry , biology
Key Clinical Message 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.