ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism [2]

Clinical Genetics

Volumn 65, Issue 6, 2004, Pages 503-505

  Van Esch, Hilde ^a   Poirier, K ^b   de Zegher, F ^b   Holvoet, M ^b   Bienvenu, T ^b   Chelly, J ^b   Devriendt, K ^b   Fryns, J P ^b  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; HOMEODOMAIN PROTEIN;

BASE PAIRING; CASE REPORT; CLINICAL FEATURE; CONGENITAL MALFORMATION; DISEASE ASSOCIATION; EMBRYO DEVELOPMENT; ENCEPHALOCELE; ENDOCRINE FUNCTION TEST; FAMILY HISTORY; FOLLOW UP; GENE DUPLICATION; GENE MUTATION; HUMAN; HYPOPITUITARISM; LETTER; MALE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSYCHOMOTOR DISORDER;

CHILD; ENCEPHALOCELE; HOMEODOMAIN PROTEINS; HUMANS; HYPOPITUITARISM; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; SYNDROME; TRANSCRIPTION FACTORS;

EID: 2942719071     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00256.x     Document Type: Letter

References (18)

1. Partington MW, Mulley JC, Sutherland GR et al. X-linked mental retardation with dystonic movements of the hands. Am J Med Genet 1988: 30 (1-2): 251-262.
2. Bienvenu T, Poirier K, Friocourt G 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 (8): 981-991.
3. Stromme P, Mangelsdorf ME, Shaw MA et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 2002: 30 (4): 441-445.
4. Kitamura K, Yanazawa M, Sugiyama N 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 (3): 359-369.
5. Stromme P, Mangelsdorf ME, Scheffer IE et al. Infantile spasms, dystonia and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. Brain Dev 2002: 24 (5): 266-268.
6. Turner G, Partington M, Kerr B et al. 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 (4): 405-411.
7. Grubben C, Fryns JP, De Zegher F et al. Anterior basal encephalocele in the median cleft face syndrome. Comments on nosology and treatment. Genet Couns 1990: 1 (2): 103-109.
8. Van Nouhuys J, Bruyn G. Nasopharyngeal transsphenoidal encephalocele. Crater-like hole in the optic disc and agenesis of the corpus callosum. Psychiatr Neurol Neurochir 1964: 67: 243-258.
9. Suwanwela C, Suwanwela N. A morphological classification of sincipital encephalomeningoceles. J Neurosurg 1972: 36 (2): 201-211.
10. Pollock JA, Newton TH, Hoyt WF. Transsphenoidal and transethmoidal encephaloceles. A review of clinical and roentgen features in 8 cases. Radiology 1968: 90 (3): 442-453.
11. Yokota A, Matsukado Y, Fuwa I et al. Anterior basal encephalocele of the neonatal and infantile period. Neurosurgery 1986: 19 (3): 468-478.
12. Smith DE, Murphy MJ, Hitchon PW et al. Transsphenoidal encephaloceles. Surg Neurol 1983: 20 (6): 471-480.
13. Morioka M, Marubayashi T, Masumitsu T et al. Basal encephaloceles with morning glory syndrome and progressive hormonal and visual disturbances: case report and review of the literature. Brain Dev 1995: 17 (3): 196-201.
14. Ellyin F, Khatir AH, Singh SP. Hypothalamic-pituitary functions in patients with transsphenoidal encephalocele and midfacial anomalies. J Clin Endocrinol Metab 1980: 51 (4): 854-856.
15. Lieblich JM, Rosen SE, Guyda H et al. The syndrome of basal encephalocele and hypothalamic-pituitary dysfunction. Ann Intern Med 1978: 89 (6): 910-916.
16. Amselem S. Current approaches for deciphering the molecular basis of combined anterior pituitary hormone deficiency in humans. Mol Cell Endocrinol 2002: 197 (1-2): 47-56.
17. Poirier K, Van Esch H, Bahi N et al. Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons. Brain Res 2004: 122 (1): 35-46.
18. Bonneau D, Toutain A, Laquerriere A et al. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging and neuropathological findings. Ann Neurol 2002: 51 (3): 340-349.