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A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade.
Gentil BJ, O'Ferrall E, Chalk C, Santana LF, Durham HD, Massie R. Gentil BJ, et al. J Neuropathol Exp Neurol. 2017 Sep 1;76(9):789-799. doi: 10.1093/jnen/nlx062. J Neuropathol Exp Neurol. 2017. PMID: 28859335 Free PMC article.
Genetic testing revealed that the patient is heterozygous for 2 FIG4 mutations, p.I41T and a T > G transversion at IVS17-10, the latter predicted to cause a splicing defect. FIG4 was severely diminished in patient's fibroblasts indicating loss-of-function. ...
Genetic testing revealed that the patient is heterozygous for 2 FIG4 mutations, p.I41T and a T > G transversion at IVS17-10, the latter …
FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.
Osmanovic A, Rangnau I, Kosfeld A, Abdulla S, Janssen C, Auber B, Raab P, Preller M, Petri S, Weber RG. Osmanovic A, et al. Eur J Hum Genet. 2017 Feb;25(3):324-331. doi: 10.1038/ejhg.2016.186. Epub 2017 Jan 4. Eur J Hum Genet. 2017. PMID: 28051077 Free PMC article.
WES analysis of the ALS family identified the rare heterozygous frameshift variant FIG4:c.759delG, p.(F254Sfs*8) predicted to delete the catalytic domain and active center from the encoded phosphoinositide 5-phosphatase with a key role in endosomal vesicle trafficking. Add …
WES analysis of the ALS family identified the rare heterozygous frameshift variant FIG4:c.759delG, p.(F254Sfs*8) predicted to delete …
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.
Zhang X, Chow CY, Sahenk Z, Shy ME, Meisler MH, Li J. Zhang X, et al. Brain. 2008 Aug;131(Pt 8):1990-2001. doi: 10.1093/brain/awn114. Epub 2008 Jun 12. Brain. 2008. PMID: 18556664 Free PMC article.
Recessive Charcot-Marie-Tooth disease type-4J (CMT4J) and its animal model, the pale tremor mouse (plt), are caused by mutations of the FIG4 gene encoding a PI(3,5)P(2) 5-phosphatase. We describe the 9-year clinical course of CMT4J, including asymmetric, rapidly progressiv …
Recessive Charcot-Marie-Tooth disease type-4J (CMT4J) and its animal model, the pale tremor mouse (plt), are caused by mutations of the FIG4 …