MECP2 Duplication Syndrome
You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.
NORD is very grateful to Melissa B. Ramocki MD, PhD, Assistant Professor, Department of Pediatrics, Section of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine and Texas Children's Hospital, for assistance in the preparation of this report.
Synonyms of MECP2 Duplication Syndrome
- trisomy Xq28
- Xq28 duplication syndrome
- No subdivisions found.
MECP2 duplication syndrome is a rare genetic neurodevelopmental disorder characterized by a wide variety of symptoms including low muscle tone (hypotonia), potentially severe intellectual disability, developmental delays, recurrent respiratory infections, speech abnormalities, seizures, and progressive spasticity, a condition characterized by muscle stiffness that is worsened with movement and can be associated with involuntary muscle spasms. Additional symptoms can occur. MECP2 duplication syndrome is caused by the duplication of genetic material on a specific region on the X chromosome (Xq28). This region includes the MECP2 gene and typically several adjacent genes. In most cases, the MECP2 duplication is inherited in an X-linked manner; in rare cases, the duplication may occur randomly for no apparent reason (de novo duplication). The disorder predominantly affects males, but females who carry the duplication on one X chromosome (heterozygotes) may exhibit some signs of the disorder. In specific, rare cases, females can develop a severe form of the disorder similar to males.
One of the first descriptions in the medical literature of this disorder as a distinct neurological entity was by Lubs et al. in 1999. The discovery that microduplications involving the MECP2 gene on the X chromosome cause a distinct neurological disorder (now known as MECP2 duplication syndrome) was first reported in the medical literature in 2005. Mutations of the MECP2 gene are known to cause Rett syndrome, a neurological disorder that primarily affects females. These disorders are sometimes grouped together as MECP2-related disorders.
MECP2 Duplication Syndrome Resources
NORD Member Organizations:
(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at email@example.com.)
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.