Menkes disease with discordant phenotype in female monozygotic twins.
Autor: | Burgemeister AL; Genetikum, Genetic Counseling and Diagnostic, Stuttgart and Neu-Ulm, Germany., Zirn B; Genetikum, Genetic Counseling and Diagnostic, Stuttgart and Neu-Ulm, Germany.; Department of Pediatrics and Neuropediatrics, University Medicine, Göttingen, Germany., Oeffner F; Genetikum, Genetic Counseling and Diagnostic, Stuttgart and Neu-Ulm, Germany., Kaler SG; Section on Translational Neuroscience, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland., Lemm G; Department of Radiology, SLK-Klinikum, Heilbronn, Germany., Rossier E; Genetikum, Genetic Counseling and Diagnostic, Stuttgart and Neu-Ulm, Germany., Büttel HM; Department of Pediatrics and Neuropediatrics, SLK-Klinikum, Heilbronn, Germany. |
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Jazyk: | angličtina |
Zdroj: | American journal of medical genetics. Part A [Am J Med Genet A] 2015 Nov; Vol. 167A (11), pp. 2826-9. Date of Electronic Publication: 2015 Aug 04. |
DOI: | 10.1002/ajmg.a.37276 |
Abstrakt: | Menkes disease (MD) is a rare X-linked recessive disorder caused by mutations in the ATP7A gene. This neurodegenerative disorder typically affects males and is characterized by impaired copper distribution and the malfunction of several copper-dependent enzymes. We report clinically discordant female monozygotic twins (MZT) with a heterozygous ATP7A mutation. One twin girl is healthy at the current age of 4 years, whereas the other twin girl developed classical MD, showed disease stabilization under copper histidine treatment but died at the age of 3 years. Presumably, the affected girl developed MD due to skewed X inactivation, although this could not be demonstrated in two tissues (blood, buccal mucosa). This case is a rare example of an affected girl with MD and shows the possibility of a discordant phenotype in MZT girls. As speculated in other X-linked diseases, the process of monozygotic twinning may be associated with skewed X inactivation leading to a discordant phenotype. (© 2015 Wiley Periodicals, Inc.) |
Databáze: | MEDLINE |
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