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

Hdl Handle:
http://hdl.handle.net/10147/254557
Title:
X inactivation in females with X-linked Charcot-Marie-Tooth disease.
Authors:
Murphy, Sinéad M; Ovens, Richard; Polke, James; Siskind, Carly E; Laurà, Matilde; Bull, Karen; Ramdharry, Gita; Houlden, Henry; Murphy, Raymond P J; Shy, Michael E; Reilly, Mary M
Affiliation:
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
Citation:
X inactivation in females with X-linked Charcot-Marie-Tooth disease. 2012, 22 (7):617-21 Neuromuscul. Disord.
Publisher:
Neuromuscular disorders : NMD
Journal:
Neuromuscular disorders : NMD
Issue Date:
Jul-2012
URI:
http://hdl.handle.net/10147/254557
DOI:
10.1016/j.nmd.2012.02.009
PubMed ID:
22483671
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.
Item Type:
Article
Language:
en
MeSH:
Adolescent; Adult; Aged; Charcot-Marie-Tooth Disease; Chromosomes, Human, X; Family Health; Female; Gene Frequency; Genetic Diseases, X-Linked; Humans; Male; Middle Aged; Mutation; X Chromosome Inactivation; Young Adult
ISSN:
1873-2364

Full metadata record

DC FieldValue Language
dc.contributor.authorMurphy, Sinéad Men_GB
dc.contributor.authorOvens, Richarden_GB
dc.contributor.authorPolke, Jamesen_GB
dc.contributor.authorSiskind, Carly Een_GB
dc.contributor.authorLaurà, Matildeen_GB
dc.contributor.authorBull, Karenen_GB
dc.contributor.authorRamdharry, Gitaen_GB
dc.contributor.authorHoulden, Henryen_GB
dc.contributor.authorMurphy, Raymond P Jen_GB
dc.contributor.authorShy, Michael Een_GB
dc.contributor.authorReilly, Mary Men_GB
dc.date.accessioned2012-12-05T11:50:26Z-
dc.date.available2012-12-05T11:50:26Z-
dc.date.issued2012-07-
dc.identifier.citationX inactivation in females with X-linked Charcot-Marie-Tooth disease. 2012, 22 (7):617-21 Neuromuscul. Disord.en_GB
dc.identifier.issn1873-2364-
dc.identifier.pmid22483671-
dc.identifier.doi10.1016/j.nmd.2012.02.009-
dc.identifier.urihttp://hdl.handle.net/10147/254557-
dc.description.abstractX-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.en_GB
dc.language.isoenen
dc.publisherNeuromuscular disorders : NMDen_GB
dc.rightsArchived with thanks to Neuromuscular disorders : NMDen_GB
dc.subject.meshAdolescent-
dc.subject.meshAdult-
dc.subject.meshAged-
dc.subject.meshCharcot-Marie-Tooth Disease-
dc.subject.meshChromosomes, Human, X-
dc.subject.meshFamily Health-
dc.subject.meshFemale-
dc.subject.meshGene Frequency-
dc.subject.meshGenetic Diseases, X-Linked-
dc.subject.meshHumans-
dc.subject.meshMale-
dc.subject.meshMiddle Aged-
dc.subject.meshMutation-
dc.subject.meshX Chromosome Inactivation-
dc.subject.meshYoung Adult-
dc.titleX inactivation in females with X-linked Charcot-Marie-Tooth disease.en_GB
dc.typeArticleen
dc.contributor.departmentMRC 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.ieen_GB
dc.identifier.journalNeuromuscular disorders : NMDen_GB
dc.description.provinceLeinsteren

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