AI Article Synopsis
- A child had weak muscles, was behind in development, and had an unusual brain scan.
- Scientists found a new change in a gene called GFAP, labeled p.R376W, that might cause problems.
- They decided that this change is dangerous and likely causes a disease called Alexander disease.
Article Abstract
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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018595 | PMC |
| http://dx.doi.org/10.1002/ccr3.655 | DOI Listing |
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