Menkes disease with discordant phenotype in female monozygotic twins. (4th August 2015)

• Record Type: Journal Article
• Authors: Burgemeister, Anna Lena; Zirn, Birgit; Oeffner, Frank; Kaler, Stephen G.; Lemm, Gunther; Rossier, Eva; Büttel, Hans‐Martin
• Is Part Of: American journal of medical genetics. Volume 167:Number 11(2015:Nov.)
• Page Start: 2826
• Page End: 2829
• Publication Date: 2015-08-04
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37276
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga37276-sec-0001" sec-type="section"> <p>Menkes disease (MD) is a rare X‐linked recessive disorder caused by mutations in the <italic>ATP7A</italic> 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 <italic>ATP7A</italic> 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.</p> </sec> </abstract>