Mental retardation and microcephaly with pontine and cerebellar hypoplasia

Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Classification and external resources
OMIM 300749

Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH), also known as Mental retardation, X-linked, syndromic, Najm type (MRXSNA), is a rare genetic disorder of infants characterised by intellectual disability and pontocerebellar hypoplasia.[1]

The disorder is associated with a mutation in the CASK gene which is transmitted in an X-linked manner.[2] As with the vast majority of genetic disorders, there is no known cure to MICPCH.

The following values seem to be aberrant in children with CASK gene defects: lactate, pyruvate, 2-ketoglutarate, adipic acid and suberic acid, which seems to backup the proposal that CASK affects mitochondrial function.[3] It is also speculated that phosphoinositide 3-kinase in the inositol metabolism is impacted in the disease, causing folic acid metabolization problems.

See also

References

  1. ↑ Online Mendelian Inheritance in Man (OMIM) 300749
  2. ↑ Burglen, L.; Chantot-Bastaraud, S.; Garel, C.; Milh, M.; Touraine, R.; Zanni, G.; Petit, F.; Afenjar, A.; Goizet, C.; Barresi, S.; Coussement, A. L.; Ioos, C.; Lazaro, L.; Joriot, S.; Desguerre, I.; Lacombe, D.; Des Portes, V.; Bertini, E.; Siffroi, J. P.; Billette De Villemeur, T.; Rodriguez, D. (2012). "Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient". Orphanet Journal of Rare Diseases. 7 (18): 18. doi:10.1186/1750-1172-7-18. PMC 3351739Freely accessible. PMID 22452838.
  3. ↑ Mukherjee K, Slawson JB, Christmann BL, Griffith LC (2014). "Neuron-specific protein interactions of Drosophila CASK-β are revealed by mass spectrometry". Front Mol Neurosci. 7: 58. doi:10.3389/fnmol.2014.00058. PMC 4075472Freely accessible. PMID 25071438.


This article is issued from Wikipedia - version of the 5/27/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.