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- Title
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.
- Authors
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.
- Abstract
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.
- Subjects
MEDICAL archives; ALEXANDER disease; HEREDITARY central nervous system demyelinating diseases; GLIAL fibrillary acidic protein; LEUKODYSTROPHY
- Publication
Clinical Case Reports, 2016, Vol 4, Issue 9, p885
- ISSN
2050-0904
- Publication type
Article
- DOI
10.1002/ccr3.655