Murphy, SM;
Ovens, R;
Polke, J;
Siskind, CE;
Laurà, M;
Bull, K;
Ramdharry, G;
... Reilly, MM; + view all
(2012)
X inactivation in females with X-linked Charcot-Marie-Tooth disease.
Neuromuscular Disorders
, 22
(7)
617 - 621.
10.1016/j.nmd.2012.02.009.
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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.
| Type: | Article |
|---|---|
| Title: | X inactivation in females with X-linked Charcot-Marie-Tooth disease. |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.nmd.2012.02.009 |
| Publisher version: | http://dx.doi.org/10.1016/j.nmd.2012.02.009 |
| Language: | English |
| Additional information: | This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. PMCID: PMC3657177 |
| Keywords: | 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 |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/1399010 |
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