Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

American Journal of Medical Genetics

Volumn 112, Issue 4, 2002, Pages 405-411

  Turner, Gillian ^a,e   Partington, Michael ^a   Kerr, Bronwyn ^b   Mangelsdorf, Marie ^c,d   Gecz, Jozef ^c,d  

^a UNIVERSITY OF NEWCASTLE   (Australia)

^b MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^d UNIVERSITY OF ADELAIDE   (Australia)

^e Hunter Health   (Australia)

Author keywords

Autism; Focal dystonia; Hypsarrhythmia; Nonspecific mental retardation (MRX); Partington syndrome; The West syndrome; X linked mental retardation (XLMR)

Indexed keywords

CYTOSINE; GUANINE;

ADULT; ARTICLE; ARX GENE; AUTISM; CHILD; CLINICAL ARTICLE; DYSTONIA; GENE; GENE DUPLICATION; GENE MUTATION; GENE SEGREGATION; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; PRIORITY JOURNAL; SEIZURE; SPASTIC PARAPLEGIA; TRINUCLEOTIDE REPEAT; WEST SYNDROME; X CHROMOSOME LINKAGE;

ADULT; AUTISTIC DISORDER; CHILD; CHROMOSOMES, HUMAN, X; DYSTONIA; FAMILY HEALTH; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; MIDDLE AGED; MUTATION; PEDIGREE; SEIZURES; SEX FACTORS; TRANSCRIPTION FACTORS; TREMOR;

GENETTA;

EID: 0036837658     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10714     Document Type: Article

References (10)

1. 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, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns J-P, Desportes V, Beldjord C, Chelly J. 2002. ARX, a novel PRD-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 11:981-991.
2. Bruyere H, Lewis MES, Wood S, MacLeod PJ, Langlois S. 1999. Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1. Clin Genet 55:173-181.
3. Claes S, Devriendt K, Lagae L, Ceulemans B, Dom L, Casaer P, Raeymaekers P, Cassiman JJ, Fryns JP. 1997. The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees. Ann Neurol 42:360-364.
4. Frints SGM, Borghgraef M, Froyen G, Marynen P, Fryns J-P. 2002. Clinical study and haplotype analysis in two brothers with Partington syndrome. Am J Med Genet In press.
5. Kerr B, Turner G, Mulley J, Gedeon A, Partington M. 1991. Non-specific X linked mental retardation. J Med Genet 28:378-382.
6. Partington MW, Mulley JC, Sutherland GR, Hockey A, Thode A, Turner G. 1988. X-linked mental retardation with dystonic movements of the hands. Am J Med Genet 30:251-262.
7. Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K, Parasivam G, Stromme P, Berkovic SF, Gecz J, Mulley JC. 2002. Neurology In press.
8. Stevenson RE, Schwartz CE, Schroer RJ. 2000. X linked mental retardation. New York: Oxford University Press. 68 p.
9. Stromme P, Sunder K, Mork C, Cassiman JJ, Fryns JP, Claes S. 1999. X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xpll.4-Xp22.11. J Med Genet 36:374-378.
10. Stromme P, Mangelsdorf ME, Shaw MA, Lower KA, Lewis SMS, Bruyere H, Lutcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints S, Fryns J-P, Sutherland GR, Mulley JC, Gecz J. 2002. Mutations of the human orthologue of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 30:441-445.