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ARX
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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
ARX
gene.
Abedini SS, Kahrizi K, Behjati F, Banihashemi S, Ghasemi Firoozabadi S, Najmabadi H. Mutational screening of ARX gene in Iranian families with X-linked intellectual disability. Arch Iran Med. 2012 Jun;15(6):361-5. doi: 012156/AIM.009.
PubMed citation
Bonneau D, Toutain A, Laquerričre A, Marret S, Saugier-Veber P, Barthez MA, Radi S, Biran-Mucignat V, Rodriguez D, Gélot A. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. Ann Neurol. 2002 Mar;51(3):340-9.
PubMed citation
Cossée M, Faivre L, Philippe C, Hichri H, de Saint-Martin A, Laugel V, Bahi-Buisson N, Lemaitre JF, Leheup B, Delobel B, Demeer B, Poirier K, Biancalana V, Pinoit JM, Julia S, Chelly J, Devys D, Mandel JL. ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. Am J Med Genet A. 2011 Jan;155A(1):98-105. doi: 10.1002/ajmg.a.33785.
PubMed citation
Entrez
Gene
Forman MS, Squier W, Dobyns WB, Golden JA. Genotypically defined lissencephalies show distinct pathologies. J Neuropathol Exp Neurol. 2005 Oct;64(10):847-57.
PubMed citation
Gécz J, Cloosterman D, Partington M. ARX: a gene for all seasons. Curr Opin Genet Dev. 2006 Jun;16(3):308-16. Epub 2006 May 2. Review.
PubMed citation
Guerrini R, Moro F, Kato M, Barkovich AJ, Shiihara T, McShane MA, Hurst J, Loi M, Tohyama J, Norci V, Hayasaka K, Kang UJ, Das S, Dobyns WB. Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology. 2007 Jul 31;69(5):427-33.
PubMed citation
Itoh M, Takizawa Y, Hanai S, Okazaki S, Miyata R, Inoue T, Akashi T, Hayashi M, Goto Y. Partial loss of pancreas endocrine and exocrine cells of human ARX-null mutation: consideration of pancreas differentiation. Differentiation. 2010 Sep-Oct;80(2-3):118-22. doi: 10.1016/j.diff.2010.05.003. Epub 2010 Jun 9.
PubMed citation
Kato M, Dobyns WB. X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy". J Child Neurol. 2005 Apr;20(4):392-7.
PubMed citation
Nasrallah IM, Minarcik JC, Golden JA. A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. J Cell Biol. 2004 Nov 8;167(3):411-6.
PubMed citation
Olivetti PR, Noebels JL. Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms. Curr Opin Neurobiol. 2012 Oct;22(5):859-65. doi: 10.1016/j.conb.2012.04.006. Epub 2012 May 5. Review.
PubMed citation
OMIM:
ARISTALESS-RELATED HOMEOBOX,
X-LINKED
Partington MW, Turner G, Boyle J, Gécz J. Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX. Clin Genet. 2004 Jul;66(1):39-45.
PubMed citation
Poirier K, Lacombe D, Gilbert-Dussardier B, Raynaud M, Desportes V, de Brouwer AP, Moraine C, Fryns JP, Ropers HH, Beldjord C, Chelly J, Bienvenu T. Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis. Neurogenetics. 2006 Mar;7(1):39-46. Epub 2005 Oct 19.
PubMed citation
Sherr EH. The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Curr Opin Pediatr. 2003 Dec;15(6):567-71. Review.
PubMed citation
Shoubridge C, Cloosterman D, Parkinson-Lawerence E, Brooks D, Gécz J. Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene. Genomics. 2007 Jul;90(1):59-71. Epub 2007 May 9.
PubMed citation
Shoubridge C, Fullston T, Gécz J. ARX spectrum disorders: making inroads into the molecular pathology. Hum Mutat. 2010 Aug;31(8):889-900. doi: 10.1002/humu.21288. Review.
PubMed citation
Shoubridge C, Gardner A, Schwartz CE, Hackett A, Field M, Gecz J. Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation? Eur J Hum Genet. 2012 Dec;20(12):1311-4. doi: 10.1038/ejhg.2012.61. Epub 2012 Apr 11.
PubMed citation
Shoubridge C, Tan MH, Seiboth G, Gécz J. ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression. Hum Mol Genet. 2012 Apr 1;21(7):1639-47. doi: 10.1093/hmg/ddr601. Epub 2011 Dec 21.
PubMed citation
Strřmme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lütcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gécz J. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet. 2002 Apr;30(4):441-5. Epub 2002 Mar 11.
PubMed citation
Suri M. The phenotypic spectrum of ARX mutations. Dev Med Child Neurol. 2005 Feb;47(2):133-7. Review.
PubMed citation
Turner G, Partington M, Kerr B, Mangelsdorf M, Gecz J. Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. Am J Med Genet. 2002 Nov 1;112(4):405-11.
PubMed citation
Uyanik G, Aigner L, Martin P, Gross C, Neumann D, Marschner-Schäfer H, Hehr U, Winkler J. ARX mutations in X-linked lissencephaly with abnormal genitalia. Neurology. 2003 Jul 22;61(2):232-5.
PubMed citation
Reviewed: May 2013
Published: June 10, 2013
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