X inactivation in females with X-linked Charcot-Marie-Tooth disease

Sinéad M Murphy; Richard Ovens; James Polke; Carly E Siskind; Matilde Laurà; Karen Bull; Gita Ramdharry; Henry Houlden; Raymond P J Murphy; Michael E Shy; Mary M Reilly

doi:10.1016/j.nmd.2012.02.009

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X inactivation in females with X-linked Charcot-Marie-Tooth disease

Journal article

Open access

Peer reviewed

X inactivation in females with X-linked Charcot-Marie-Tooth disease

Sinéad M Murphy, Richard Ovens, James Polke, Carly E Siskind, Matilde Laurà, Karen Bull, Gita Ramdharry, Henry Houlden, Raymond P J Murphy, Michael E Shy, …

Neuromuscular disorders : NMD, Vol.22(7), pp.617-621

07/2012

DOI: 10.1016/j.nmd.2012.02.009

PMCID: PMC3657177

PMID: 22483671

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Abstract

X-linked Charcot-Marie-Tooth disease (CMT1X) is the second most common inherited neuropathy, caused by mutations in gap junction beta-1 (GJB1). Males have a uniformly moderately severe phenotype while females have a variable phenotype, suggested to be due to X inactivation. We aimed to assess X inactivation pattern in females with CMT1X and correlate this with phenotype using the CMT examination score to determine whether the X inactivation pattern accounted for the variable phenotype in females with CMT1X. We determined X inactivation pattern in 67 females with CMT1X and 24 controls using the androgen receptor assay. We were able to determine which X chromosome carried the GJB1 mutation in 30 females. There was no difference in X inactivation pattern between patients and controls. In addition, there was no correlation between X inactivation pattern in blood and phenotype. A possible explanation for these findings is that the X inactivation pattern in Schwann cells rather than in blood may explain the variable phenotype in females with CMT1X.

X Chromosome Inactivation - genetics

Gene Frequency

Humans

Middle Aged

Family Health

Male

Mutation - genetics

Charcot-Marie-Tooth Disease - genetics

Chromosomes, Human, X

Young Adult

Adolescent

Adult

Female

Genetic Diseases, X-Linked - genetics

Aged

Details

Title: Subtitle: X inactivation in females with X-linked Charcot-Marie-Tooth disease
Creators: Sinéad M Murphy - MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery and Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK. sinead.murphy@amnch.ie
Richard Ovens
James Polke
Carly E Siskind
Matilde Laurà
Karen Bull
Gita Ramdharry
Henry Houlden
Raymond P J Murphy
Michael E Shy
Mary M Reilly
Resource Type: Journal article
Publication Details: Neuromuscular disorders : NMD, Vol.22(7), pp.617-621
DOI: 10.1016/j.nmd.2012.02.009
PMID: 22483671
PMCID: PMC3657177
NLM abbreviation: Neuromuscul Disord
ISSN: 0960-8966
eISSN: 1873-2364
Publisher: England
Grant note: G108/638 / Medical Research Council G0601943 / Medical Research Council Medical Research Council G1001253 / Medical Research Council G0802760 / Medical Research Council 1U54NS065712-01 / NINDS NIH HHS U54 NS065712 / NINDS NIH HHS
Language: English
Date published: 07/2012
Academic Unit: Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
Record Identifier: 9984020771302771

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