Charcot Marie Tooth disease type 4J with complex central nervous system features

James P. Orengo; Pravin Khemani; John W. Day; Jun Li; Carly E. Siskind

doi:10.1002/acn3.525

Charcot Marie Tooth disease type 4J with complex central nervous system features

James P. Orengo, Pravin Khemani, John W. Day, Jun Li, Carly E. Siskind

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

Abstract

We describe a family with Charcot Marie Tooth disease type 4J presenting with features of Charcot Marie Tooth disease plus parkinsonism and aphemia. Genetic testing found two variants in the FIG4 gene: c.122T>C (p.I41T) – the most common Charcot Marie Tooth disease type 4J variant – and c.1949-10T>G (intronic). Proband fibroblasts showed absent FIG4 protein on western blot, and skipping of exon 18 by RT-PCR. As most patients with Charcot Marie Tooth disease type 4J do not have central nervous system deficits, we postulate the intronic variant and I41T mutation together are causing loss of FIG4 protein and subsequently the central nervous system findings in our family.

Original language	English (US)
Pages (from-to)	222-225
Number of pages	4
Journal	Annals of Clinical and Translational Neurology
Volume	5
Issue number	2
DOIs	https://doi.org/10.1002/acn3.525
State	Published - Feb 2018

ASJC Scopus subject areas

General Neuroscience
Clinical Neurology

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@article{f1e9c660471c4f7a832af3af20ecedb2,

title = "Charcot Marie Tooth disease type 4J with complex central nervous system features",

abstract = "We describe a family with Charcot Marie Tooth disease type 4J presenting with features of Charcot Marie Tooth disease plus parkinsonism and aphemia. Genetic testing found two variants in the FIG4 gene: c.122T>C (p.I41T) – the most common Charcot Marie Tooth disease type 4J variant – and c.1949-10T>G (intronic). Proband fibroblasts showed absent FIG4 protein on western blot, and skipping of exon 18 by RT-PCR. As most patients with Charcot Marie Tooth disease type 4J do not have central nervous system deficits, we postulate the intronic variant and I41T mutation together are causing loss of FIG4 protein and subsequently the central nervous system findings in our family.",

author = "Orengo, {James P.} and Pravin Khemani and Day, {John W.} and Jun Li and Siskind, {Carly E.}",

note = "Funding Information: We gratefully acknowledge the following grants for supporting this study: NIH R01NS066927 and NINDS/ ORDR, NCATS U54NS065712. Funding Information: This study was supported by NIH R01NS066927 and NINDS/ORDR, NCATS U54NS065712. Publisher Copyright: {\textcopyright} 2018 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.",

year = "2018",

month = feb,

doi = "10.1002/acn3.525",

language = "English (US)",

volume = "5",

pages = "222--225",

journal = "Annals of Clinical and Translational Neurology",

issn = "2328-9503",

publisher = "John Wiley and Sons Inc.",

number = "2",

}

TY - JOUR

T1 - Charcot Marie Tooth disease type 4J with complex central nervous system features

AU - Orengo, James P.

AU - Khemani, Pravin

AU - Day, John W.

AU - Li, Jun

AU - Siskind, Carly E.

N1 - Funding Information: We gratefully acknowledge the following grants for supporting this study: NIH R01NS066927 and NINDS/ ORDR, NCATS U54NS065712. Funding Information: This study was supported by NIH R01NS066927 and NINDS/ORDR, NCATS U54NS065712. Publisher Copyright: © 2018 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.

PY - 2018/2

Y1 - 2018/2

N2 - We describe a family with Charcot Marie Tooth disease type 4J presenting with features of Charcot Marie Tooth disease plus parkinsonism and aphemia. Genetic testing found two variants in the FIG4 gene: c.122T>C (p.I41T) – the most common Charcot Marie Tooth disease type 4J variant – and c.1949-10T>G (intronic). Proband fibroblasts showed absent FIG4 protein on western blot, and skipping of exon 18 by RT-PCR. As most patients with Charcot Marie Tooth disease type 4J do not have central nervous system deficits, we postulate the intronic variant and I41T mutation together are causing loss of FIG4 protein and subsequently the central nervous system findings in our family.

AB - We describe a family with Charcot Marie Tooth disease type 4J presenting with features of Charcot Marie Tooth disease plus parkinsonism and aphemia. Genetic testing found two variants in the FIG4 gene: c.122T>C (p.I41T) – the most common Charcot Marie Tooth disease type 4J variant – and c.1949-10T>G (intronic). Proband fibroblasts showed absent FIG4 protein on western blot, and skipping of exon 18 by RT-PCR. As most patients with Charcot Marie Tooth disease type 4J do not have central nervous system deficits, we postulate the intronic variant and I41T mutation together are causing loss of FIG4 protein and subsequently the central nervous system findings in our family.

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SN - 2328-9503

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EP - 225

JO - Annals of Clinical and Translational Neurology

JF - Annals of Clinical and Translational Neurology

IS - 2

ER -

Charcot Marie Tooth disease type 4J with complex central nervous system features

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