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Open AccessArticle

X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers

1
Cardiomyology and Medical Genetics, Department of Experimental Medicine, University of Campania, 80138 Naples, Italy
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Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, 00-901 Warsaw, Poland
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Neurology Department, Hospital San Francesco of Nuoro, 08100 Nuoro, Italy
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Department of Experimental Medicine, University of Campania, 80138 Naples, Italy
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Department of Cardiology, Medical University of Warsaw, 02-091 Warsaw, Poland
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Chair of Cardiology, University of Campania-Monaldi Hospital, 80131 Napoli, Italy
*
Author to whom correspondence should be addressed.
Genes 2019, 10(11), 919; https://doi.org/10.3390/genes10110919
Received: 25 September 2019 / Revised: 31 October 2019 / Accepted: 7 November 2019 / Published: 11 November 2019
X-linked Emery–Dreifuss muscular dystrophy (EDMD1) affects approximately 1:100,000 male births. Female carriers are usually asymptomatic but, in some cases, they may present clinical symptoms after age 50 at cardiac level, especially in the form of conduction tissue anomalies. The aim of this study was to evaluate the relation between heart involvement in symptomatic EDMD1 carriers and the X-chromosome inactivation (XCI) pattern. The XCI pattern was determined on the lymphocytes of 30 symptomatic and asymptomatic EDMD1 female carriers—25 familial and 5 sporadic cases—seeking genetic advice using the androgen receptor (AR) methylation-based assay. Carriers were subdivided according to whether they were above or below 50 years of age. A variance analysis was performed to compare the XCI pattern between symptomatic and asymptomatic carriers. The results show that 20% of EDMD1 carriers had cardiac symptoms, and that 50% of these were ≥50 years of age. The XCI pattern was similar in both symptomatic and asymptomatic carriers. Conclusions: Arrhythmias in EDMD1 carriers poorly correlate on lymphocytes to a skewed XCI, probably due to (a) the different embryological origin of cardiac conduction tissue compared to lymphocytes or (b) the preferential loss of atrial cells replaced by fibrous tissue. View Full-Text
Keywords: Emery–Dreifuss muscular dystrophy (EDMD1); X-chromosome inactivation (XCI); cardiac symptoms; skewed X-chromosome inactivation Emery–Dreifuss muscular dystrophy (EDMD1); X-chromosome inactivation (XCI); cardiac symptoms; skewed X-chromosome inactivation
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Viggiano, E.; Madej-Pilarczyk, A.; Carboni, N.; Picillo, E.; Ergoli, M.; del Gaudio, S.; Marchel, M.; Nigro, G.; Palladino, A.; Politano, L. X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers. Genes 2019, 10, 919.

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