MECP2-related severe neonatal encephalopathy - Genetics Home Reference

MECP2-related severe neonatal encephalopathy

Reviewed October 2011

What is MECP2-related severe neonatal encephalopathy?

MECP2-related severe neonatal encephalopathy is a brain disease characterized by small head size (microcephaly), poor muscle tone (hypotonia) in infancy, movement disorders, rigidity, and seizures. This condition primarily affects males. Infants with MECP2-related severe neonatal encephalopathy appear normal at birth but then develop severe brain dysfunction (encephalopathy) within the first week of life. These individuals experience poor feeding and frequent vomiting leading to a failure to gain weight and grow at the expected rate (failure to thrive). Males with MECP2-related severe neonatal encephalopathy have mild to severe intellectual disability. Affected individuals have breathing problems, with some having episodes in which breathing slows or stops for short periods (apnea). Most males with this condition do not live past the age of 2 due to respiratory failure.



How common is MECP2-related severe neonatal encephalopathy?

It is estimated that 1 in 50,000 to 100,000 males are affected with MECP2-related severe neonatal encephalopathy.



What genes are related to MECP2-related severe neonatal encephalopathy?

Mutations in the MECP2 gene cause MECP2-related severe neonatal encephalopathy. The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them off when they are not needed. The MeCP2 protein likely plays a role in maintaining connections (synapses) between nerve cells. The MeCP2 protein may also control the production of different versions of certain proteins in nerve cells. Although mutations in the MECP2 gene disrupt the normal function of nerve cells, it is unclear how these mutations lead to the signs and symptoms of MECP2-related severe neonatal encephalopathy.

Read more about the MECP2 gene.


full-text:
MECP2-related severe neonatal encephalopathy - Genetics Home Reference