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MECP2 Duplication Syndrome

Abstract

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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

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
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.

Introduction
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.

Organizations related to MECP2 Duplication Syndrome

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