Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

Author(s)
Chow, Clement Y.; Landers, John E.; Bergren, Sarah K.; Sapp, Peter C.; Grant, Adrienne E.; ... Show more
Thumbnail
DownloadChow-2009-Deleterious Variants.pdf (131.1Kb)
PUBLISHER_CC
Terms of use
Metadata
Show full item record
Abstract
Mutations of the lipid phosphatase FIG4 that regulates PI(3,5)P2 are responsible for the recessive peripheral-nerve disorder CMT4J. We now describe nonsynonymous variants of FIG4 in 2% (9/473) of patients with amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS). Heterozygosity for a deleterious allele of FIG4 appears to be a risk factor for ALS and PLS, extending the list of known ALS genes and increasing the clinical spectrum of FIG4-related diseases.
Date issued
2009-01
URI
http://hdl.handle.net/1721.1/96364
Department
Massachusetts Institute of Technology. Department of Biology
Journal
American Journal of Human Genetics
Publisher
Elsevier B.V.
Citation
Chow, Clement Y., John E. Landers, Sarah K. Bergren, Peter C. Sapp, Adrienne E. Grant, Julie M. Jones, Lesley Everett, et al. “Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS.” The American Journal of Human Genetics 84, no. 1 (January 2009): 85–88.
Version: Final published version
ISSN
00029297
Collections