MECP2-related severe neonatal encephalopathy
Senast uppdaterad 21 Mar 2023
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MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy). Affected males have a small head size (microcephaly), poor muscle tone (hypotonia) in infancy, movement disorders, rigidity, and seizures. Infants with this condition appear normal at birth but then develop severe encephalopathy within the first week of life. These babies experience poor feeding, leading to a failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MECP2-related severe neonatal encephalopathy have severe to profound intellectual disability. Affected males have breathing problems, with some having episodes in which breathing slows or stops for short periods (apnea). As the child ages, the apnea episodes tend to last longer, especially during sleep, and affected babies often require use of a machine to help regulate their breathing (mechanical ventilation). Most males with MECP2-related severe neonatal encephalopathy do not live past the age of 2 because of respiratory failure.
Beskrivning
MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy). Affected males have a small head size (microcephaly), poor muscle tone (hypotonia) in infancy, movement disorders, rigidity, and seizures. Infants with this condition appear normal at birth but then develop severe encephalopathy within the first week of life. These babies experience poor feeding, leading to a failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MECP2-related severe neonatal encephalopathy have severe to profound intellectual disability. Affected males have breathing problems, with some having episodes in which breathing slows or stops for short periods (apnea). As the child ages, the apnea episodes tend to last longer, especially during sleep, and affected babies often require use of a machine to help regulate their breathing (mechanical ventilation). Most males with MECP2-related severe neonatal encephalopathy do not live past the age of 2 because of respiratory failure.
MECP2-related severe neonatal encephalopathy is the most severe condition in a spectrum of disorders with the same genetic cause. The mildest is PPM-X syndrome, followed by MECP2 duplication syndrome, then Rett syndrome (which exclusively affects females), and finally MECP2-related severe neonatal encephalopathy.
Inheritance patterns
The source lists the following possible inheritance patterns: X-linked. More than one pattern can apply in different cases.
Related genes
Other names
Methyl-cytosine phosphate guanine binding protein 2 related severe neonatal encephalopathy
Severe congenital encephalopathy due to MECP2 mutation
Severe neonatal encephalopathy due to MECP2 mutations
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Vidare läsning och referenser
- MECP2-related severe neonatal encephalopathy; MedlinePlus, National Library of Medicine.
- Bianciardi L, Fichera M, Failla P, Di Marco C, Grozeva D, Mencarelli MA, Spiga O, Mari F, Meloni I, Raymond L, Renieri A, Romano C, Ariani F. MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. J Hum Genet. 2016 Feb;61(2):95-101. doi: 10.1038/jhg.2015.118. Epub 2015 Oct 22.
- Francke U. Mechanisms of disease: neurogenetics of MeCP2 deficiency. Nat Clin Pract Neurol. 2006 Apr;2(4):212-21. doi: 10.1038/ncpneuro0148.
- Gonzales ML, LaSalle JM. The role of MeCP2 in brain development and neurodevelopmental disorders. Curr Psychiatry Rep. 2010 Apr;12(2):127-34. doi: 10.1007/s11920-010-0097-7.
- Kankirawatana P, Leonard H, Ellaway C, Scurlock J, Mansour A, Makris CM, Dure LS 4th, Friez M, Lane J, Kiraly-Borri C, Fabian V, Davis M, Jackson J, Christodoulou J, Kaufmann WE, Ravine D, Percy AK. Early progressive encephalopathy in boys and MECP2 mutations. Neurology. 2006 Jul 11;67(1):164-6. doi: 10.1212/01.wnl.0000223318.28938.45.
- Schule B, Armstrong DD, Vogel H, Oviedo A, Francke U. Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure. Clin Genet. 2008 Aug;74(2):116-26. doi: 10.1111/j.1399-0004.2008.01005.x. Epub 2008 May 8.
- Villard L. MECP2 mutations in males. J Med Genet. 2007 Jul;44(7):417-23. doi: 10.1136/jmg.2007.049452. Epub 2007 Mar 9.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
21 Mar 2023 | Senaste versionen
1 Oct 2011 | Ursprungligen publicerad
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