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 journalArticle

3 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)222-225
Number of pages4
JournalAnnals of Clinical and Translational Neurology
Volume5
Issue number2
DOIs
StatePublished - Feb 1 2018

Fingerprint

Central Nervous System
Charcot-Marie-Tooth Disease
Genetic Testing
Parkinsonian Disorders
Exons
Proteins
Fibroblasts
Western Blotting
Polymerase Chain Reaction
Mutation
Genes
Type 4j Charcot-Marie-Tooth Disease

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

Cite this

Charcot Marie Tooth disease type 4J with complex central nervous system features. / Orengo, James P.; Khemani, Pravin; Day, John W.; Li, Jun; Siskind, Carly E.

In: Annals of Clinical and Translational Neurology, Vol. 5, No. 2, 01.02.2018, p. 222-225.

Research output: Contribution to journalArticle

Orengo, James P. ; Khemani, Pravin ; Day, John W. ; Li, Jun ; Siskind, Carly E. / Charcot Marie Tooth disease type 4J with complex central nervous system features. In: Annals of Clinical and Translational Neurology. 2018 ; Vol. 5, No. 2. pp. 222-225.
@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.}",
year = "2018",
month = "2",
day = "1",
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.

PY - 2018/2/1

Y1 - 2018/2/1

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.

UR - http://www.scopus.com/inward/record.url?scp=85042141212&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85042141212&partnerID=8YFLogxK

U2 - 10.1002/acn3.525

DO - 10.1002/acn3.525

M3 - Article

VL - 5

SP - 222

EP - 225

JO - Annals of Clinical and Translational Neurology

JF - Annals of Clinical and Translational Neurology

SN - 2328-9503

IS - 2

ER -