ARX is a crucial gene for the development of interneurons in the fetal brain. A polyalanine repeat expansion mutation of ARX causes mental retardation and seizures, including those of West syndrome, in males.
Pathology
polyalanine repeat expansion mutations of ARX in
- X-linked infantile spasms (ISSX) (MIM.308350)
- early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome) (EIEE/WEST syndrome) (MIM.308350) (17668384)
- X-linked myoclonic epilepsy with intellectual disability and spasticity (MIM.300432)
germline mutations of ARX in
- X-linked lissencephaly with abnormal genitalia (MIM.300215)
- X-linked infantile spasms (ISSX) (MIM.308350)
- nonspecific X-linked mental retardation designated MRX54 (MIM.300419)
- X-linked mental retardation, agenesis of the corpus callosum, and abnormal genitalia (MIM.300004)
- hydranencephaly with abnormal genitalia (MIM.300215)
See also
polyalanine repeat expansions
References
Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet. 2007 Aug;81(2):361-6. PMID: 17668384
Kato, M.; Das, S.; Petras, K.; Kitamura, K.; Morohashi, K.; Abuelo, D. N.; Barr, M.; Bonneau, D.; Brady, A. F.; Carpenter, N. J.; Cipero, K. L.; Frisone, F.; and 21 others : Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum. Mutat. 23: 147-159, 2004. PubMed ID : 14722918
Bienvenu, T.; Poirier, K.; Friocourt, G.; Bahi, N.; Beaumont, D.; Fauchereau, F.; Ben Jeema, L.; Zemni, R.; Vinet, M.-C.; Francis, F.; Couvert, P.; Gomot, M.; and 11 others : ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum. Molec. Genet. 11: 981-991, 2002. PubMed ID : 11971879