Phenotype expression in women with CMT1X

Carly E Siskind; Sinéad M Murphy; Richard Ovens; James Polke; Mary M Reilly; Michael E Shy

doi:10.1111/j.1529-8027.2011.00332.x

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Phenotype expression in women with CMT1X

Journal article

Open access

Peer reviewed

Phenotype expression in women with CMT1X

Carly E Siskind, Sinéad M Murphy, Richard Ovens, James Polke, Mary M Reilly and Michael E Shy

Journal of the peripheral nervous system, Vol.16(2), pp.102-107

06/2011

DOI: 10.1111/j.1529-8027.2011.00332.x

PMID: 21692908

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Abstract

Charcot-Marie-Tooth disease type 1X (CMT1X) is the second most common inherited peripheral neuropathy. Women with CMT1X typically have a less severe phenotype than men, perhaps because of X-inactivation patterns. Our objective was to determine the phenotype of women with CMT1X and whether X-inactivation patterns in white blood cells (WBCs) differ between females with CMT1X and controls. Thirty-one women with CMT1X were evaluated using the CMT neuropathy score (CMTNS) and the CMT symptom score in cross-sectional and longitudinal analyses. Lower scores correspond to less disability. WBCs were analyzed for X-inactivation pattern by androgen receptor X-inactivation assay in 14 patients and 23 controls. The 31 women's mean CMTNS was 8.35. Two-thirds of the cohort had a mild CMTNS (mean 4.85) and one-third had a moderate CMTNS (mean 14.73). Three patients had a CMTNS of 0. The pattern of X-inactivation did not differ between the affected and control groups. Women with CMT1X presented with variable impairment independent of age, type of mutation, or location of mutation. No evidence supported the presence of a gap junction beta-1 (GJB1) mutation affecting the pattern of X-inactivation in blood. Further studies are planned to determine whether X-inactivation is the mechanism for CMT1X females' variable phenotypes.

X Chromosome Inactivation - genetics

Humans

Middle Aged

Electrophysiology

Neural Conduction - physiology

Charcot-Marie-Tooth Disease - genetics

Young Adult

Phenotype

Pedigree

Adolescent

Aged, 80 and over

Adult

Female

Genetic Diseases, X-Linked - genetics

Aged

Charcot-Marie-Tooth Disease - physiopathology

Child

Genetic Diseases, X-Linked - physiopathology

Details

Title: Subtitle: Phenotype expression in women with CMT1X
Creators: Carly E Siskind - Department of Neurology, Wayne State University, Detroit, MI 48201, USA. csiskind@med.wayne.edu
Sinéad M Murphy
Richard Ovens
James Polke
Mary M Reilly
Michael E Shy
Resource Type: Journal article
Publication Details: Journal of the peripheral nervous system, Vol.16(2), pp.102-107
DOI: 10.1111/j.1529-8027.2011.00332.x
PMID: 21692908
NLM abbreviation: J Peripher Nerv Syst
ISSN: 1085-9489
eISSN: 1529-8027
Publisher: United States
Grant note: G0601943 / Medical Research Council Medical Research Council 5U54NS065712-02 / NINDS NIH HHS 1U54NS065712-01 / NINDS NIH HHS
Language: English
Date published: 06/2011
Academic Unit: Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
Record Identifier: 9984020648302771

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