X inactivation in females with X-linked Charcot-Marie-Tooth disease.
Neuromuscul Disord
; 22(7): 617-21, 2012 Jul.
Article
in En
| MEDLINE
| ID: mdl-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.
Full text:
1
Database:
MEDLINE
Main subject:
Charcot-Marie-Tooth Disease
/
Chromosomes, Human, X
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Genetic Diseases, X-Linked
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X Chromosome Inactivation
Limits:
Adolescent
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Adult
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Aged
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Female
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Humans
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Male
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Middle aged
Language:
En
Year:
2012
Type:
Article