Mental retardation and microcephaly with pontine and cerebellar hypoplasia

Intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH), also known as mental retardation, X-linked, syndromic, Najm type (MRXSNA), is a rare X-linked dominant genetic disorder of infants characterised by intellectual disability and pontocerebellar hypoplasia. It usually affects females; many males die before birth or not long after.[2]

Intellectual disability and microcephaly with pontine and cerebellar hypoplasia
Other namesX-linked intellectual disability - microcephaly - pontocerebellar hypoplasia[1]
This condition is inherited in an X-linked dominant manner.
SpecialtyMedical genetics 

The disorder is associated with a mutation in the CASK gene.[3] 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.[4] 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. "X-linked intellectual disability, Najm type | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 18 July 2019.
  2. Online Mendelian Inheritance in Man (OMIM): 300749
  3. 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 3351739. PMID 22452838.
  4. 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 4075472. PMID 25071438.
Classification
External resources


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.