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Diseases

Genetic and Rare Diseases Information Center (GARD)

MECP2 duplication syndrome


Other Names for this Disease
  • Distal duplication Xq
  • Lubs X-linked mental retardation syndrome (formerly)
  • Mental retardation, X-linked, Lubs type (formerly)
  • MRXSL
  • Telomeric duplication Xq
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Overview

MECP2 duplication syndrome is a genetic condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Other signs and symptoms include infantile hypotonia; delayed motor milestones (i.e. sitting up, crawling); recurrent infections; poor or absent speech; seizures; and/or spasticity. MECP2 duplication syndrome occurs when there is an extra copy (duplication) of the MECP2 gene in each cell. This is generally caused by a duplication of genetic material located on the long (q) arm of the X chromosome. The condition is inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person.[1][2]
Last updated: 7/23/2015

References

  1. Hilde Van Esch, MD, PhD. MECP2 Duplication Syndrome. GeneReviews. October 2014; http://www.ncbi.nlm.nih.gov/books/NBK1284/.
  2. MECP2 Duplication Syndrome. NORD. 2013; https://rarediseases.org/rare-diseases/mecp2-duplication-syndrome/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on MECP2 duplication syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about MECP2 duplication syndrome.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss MECP2 duplication syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Distal duplication Xq
  • Lubs X-linked mental retardation syndrome (formerly)
  • Mental retardation, X-linked, Lubs type (formerly)
  • MRXSL
  • Telomeric duplication Xq
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.