CDKL5 disruption by t(X;18) in a girl with West syndrome

Clinical Genetics

Volumn 74, Issue 3, 2008, Pages 288-290

  Nishimura, M ^a,b   Takano, A ^c   Mizuguchi, T ^a   Saitsu, H ^a   Takeuchi, Y ^c   Matsumoto, Naomichi ^a,b  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b YOKOHAMA CITY UNIVERSITY   (Japan)

^c SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE 5; GENE PRODUCT; GENOMIC DNA; PROTEIN ARX;

CASE REPORT; CHROMOSOME ABERRATION; CHROMOSOME XP; CYTOGENETICS; ELECTROENCEPHALOGRAM; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HYPSARRHYTHMIA; INFANTILE SPASM; INTRON; LETTER; METAPHASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN BLOTTING; WEST SYNDROME;

BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; PROTEIN-SERINE-THREONINE KINASES; SPASMS, INFANTILE; TRANSLOCATION, GENETIC;

EID: 49549116684     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01048.x     Document Type: Letter

References (15)

1. Nabbout R, Dulac O. Epileptic syndromes in infancy and childhood. Curr Opin Neurol 2008: 21: 161-166.
2. Kato M. A new paradigm for West syndrome based on molecular and cell biology. Epilepsy Res 2006: 70 (Suppl. 1): S87-S95.
3. Akabori S, Takano T, Fujito H et al. West Syndrome in a Patient with Balanced Translocation t(X;18)(p22;p11.2). Pediatr Neurol 2007: 37: 64-66.
4. Kalscheuer VM, Tao J, Donnelly A et al. Disruption of the serine/ threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 2003: 72: 1401-1411.
5. Tao J, Van Esch H, Hagedorn-Greiwe M et al. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 2004: 75: 1149-1154.
6. Evans JC, Archer HL, Colley JP et al. Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet 2005: 13: 1113-1120.
7. Archer HL, Evans J, Edwards S et al. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 2006: 43: 729-734.
8. Rosas-Vargas H, Bahi-Buisson N, Philippe C et al. Impairment of CDKL5 nuclear localization as a cause for severe infantile encephalopathy. J Med Genet 2008: 45: 172-178.
9. Bahi-Buisson N, Kaminska A, Boddaert N et al. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia Published Online 7 February 2008. doi:10.1111/j.1528-1167.2007.01520.x
10. Weaving LS, Christodoulou J, Williamson SL et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 2004: 75: 1079-1093.
11. Lin C, Franco B, Rosner MR. CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders. Hum Mol Genet 2005: 14: 3775-3786.
12. Mari F, Azimonti S, Bertani I et al. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet 2005: 14: 1935-1946.
13. Pintaudi M, Baglietto MG, Gaggero R et al. Clinical and electroencephalographic features in patients with CDKL5 mutations: Two new Italian cases and review of the literature. Epilepsy Behav 2008: 12: 326-331.
14. Aricescu AR, Siebold C, Choudhuri K et al. Structure of a tyrosine phosphatase adhesive interaction reveals a spacer-clamp mechanism. Science 2007: 317: 1217-1220.
15. Allen RC, Zoghbi HY, Moseley AB et al. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992: 51: 1229-1239.