Mental retardation and microcephaly with pontine and cerebellar hypoplasia
| Intellectual disability and microcephaly with pontine and cerebellar hypoplasia | |
|---|---|
| Other names | X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia[1] |
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| This condition is inherited in an X-linked dominant manner. | |
| Specialty | Medical genetics  |
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]
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
- ^ "X-linked intellectual disability, Najm type | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 18 July 2019.
- ^ Online Mendelian Inheritance in Man (OMIM): 300749
- ^ 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.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ 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.
{{cite journal}}: CS1 maint: unflagged free DOI (link)
External links
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