Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the aristaless-related homeobox gene

Neuropediatrics

Volumn 35, Issue 3, 2004, Pages 157-160

  Hartmann, H ^a   Uyanik, G ^b   Gross, C ^c   Hehr, U ^c   Lucke T ^a   Arslan Kirchner, M ^a   Antosch, B ^d   Das, A M ^a   Winkler, J ^b  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b UNIVERSITY OF REGENSBURG   (Germany)

^c Ctr of Gynecological Endocrinology   (Germany)

^d Department of Pediatrics   (Germany)

Author keywords

Abnormal genitalia; Agenesis of the corpus callosum; ARX gene; Epilepsy; Neuronal migration; XLAG

Indexed keywords

AGYRIA; ARTICLE; ARX GENE; BRAIN DEVELOPMENT; BRAIN MALFORMATION; CASE REPORT; CELL MIGRATION; CORPUS CALLOSUM AGENESIS; EPILEPSY; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC ANALYSIS; GENITAL MALFORMATION; HOMEOBOX; HUMAN; INFANT; INTRACTABLE EPILEPSY; MALE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER; XLAG GENE;

ABNORMALITIES, MULTIPLE; CORPUS CALLOSUM; EPILEPSY; FRAMESHIFT MUTATION; GENES, HOMEOBOX; HOMEODOMAIN PROTEINS; HUMANS; INFANT, NEWBORN; MALE; PEDIGREE; TRANSCRIPTION FACTORS; UROGENITAL ABNORMALITIES;

EID: 3242712257     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-817919     Document Type: Article

References (10)

1. Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F et al. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 2002; 11: 981-991
2. Bonneau D, Toutain A, Laquerriere A, Marret S, Saugier-Veber P, Barthez MA et al. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. Ann Neurol 2002; 51: 340-349
3. Dobyns WB, Berry-Kravis E, Havernick NJ, Holden KR, Viskochil D. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet 1999; 86: 331-337
4. Kato M, Dobyns WB. Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet 2003; 12: 89-96
5. Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 2002; 32: 359-369
6. Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K, Parasivam G et al. X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. Neurology 2002; 59: 348-356
7. Stromme P, Mangelsdorf ME, Scheffer IE, Gecz J. Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless-related homeobox gene, ARX. Brain Dev 2002; 24: 266-268
8. Stromme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 2002; 30: 441-445
9. 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; 112: 405-411
10. Uyanik G, Aigner L, Martin P, Grobeta C, Neumann D, Marschner-Schafer H et al. ARX mutations in X-linked lissencephaly with abnormal genitalia. Neurology 2003; 61: 232-235