Novel mutations in cyclin-dependent kinase-Like 5 (CDKL5) gene in indian cases of rett syndrome

NeuroMolecular Medicine

Volumn 15, Issue 1, 2013, Pages 218-225

  Das, Dhanjit Kumar ^a   Mehta, Bhakti ^a   Menon, Shyla R ^a   Raha, Sarbani ^b   Udani, Vrajesh ^b  

^a Genetic Research Centre India   (India)

^b P D HINDUJA NATIONAL HOSPITAL   (India)

Author keywords

CDKL5; Epilepsy; Rett syndrome; RTT; STK9

Indexed keywords

ANTICONVULSIVE AGENT; CYCLIN DEPENDENT KINASE; CYCLIN DEPENDENT KINASE LIKE 5; GENOMIC DNA; UNCLASSIFIED DRUG;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CELLULAR DISTRIBUTION; CHILD; CLINICAL ARTICLE; COMPUTER ANALYSIS; COMPUTER PROGRAM; CYCLIN DEPENDENT KINASE LIKE 5 GENE; ELECTROENCEPHALOGRAM; ENZYME ACTIVITY; ENZYME STRUCTURE; FEMALE; GASTROESOPHAGEAL REFLUX; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC VARIABILITY; HUMAN; INDIAN; INFANT; INTELLIGENCE QUOTIENT; MENTAL DEFICIENCY; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; RETT SYNDROME; SEIZURE; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; SILENT MUTATION; X CHROMOSOME INACTIVATION;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; CHROMOSOMES, HUMAN, X; CONSERVED SEQUENCE; FEMALE; HUMANS; INDIA; INFANT, NEWBORN; METHYL-CPG-BINDING PROTEIN 2; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; POINT MUTATION; PROTEIN CONFORMATION; PROTEIN STRUCTURE, TERTIARY; PROTEIN-SERINE-THREONINE KINASES; RETT SYNDROME; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; SPECIES SPECIFICITY; VERTEBRATES; X CHROMOSOME INACTIVATION;

EID: 84874725093     PISSN: 15351084     EISSN: 15591174     Source Type: Journal    
DOI: 10.1007/s12017-012-8212-z     Document Type: Article

References (24)

1. Allen, R. C.; Zoghbi, H. Y.; Moseley, A. B.; Rosenblatt, H. M.; & Belmont, J. W. (1992). Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. American Journal of Human Genetics, 51(6), 1229-1239. (Pubitemid 23001082)
2. Amir, R. D.; Van den Veyver, I. B.; Wan, M.; Tra, C. Q.; Francke, U.; & Zoghbi, H. Y. (1999). Rett syndrome is caused by mutations in X-linked MeCP2, encoding methyl CpG binding protein 2. Nature Genetics, 23(2), 185-188. (Pubitemid 29455390)
3. Archer, H. L.; Evans, J.; Edwards, S.; Colley, J.; Newbury-Ecob, R.; O'Callaghan, F.; et al. (2006). CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. Journal of Medical Genetics, 43(9), 729-734. (Pubitemid 44483915)
4. Bahi-Buisson, N.; & Bienvenu, T. (2012). CDKL5-related disorders: From clinical description to molecular genetics. Molecular Syndromology, 2(3-5), 137-152.
5. Bahi-Buisson, N.; Villeneuve, N.; Caietta, E.; Jacquette, A.; Maurey, H.; Matthijs, G.; et al. (2012). Recurrent mutations in the CDKL5 gene: Genotype-phenotype relationships. American Journal of Medical Genetics Part A, 158A(7), 1612-1619.
6. Bertani, I.; Rusconi, L.; Bolognese, F.; Forlani, G.; Conca, B.; De Monte, L.; et al. (2006). Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. Journal of Biological Chemistry, 281(42), 32048-32056. (Pubitemid 46041465)
7. Castren, M.; Gaily, E.; Tengström, C.; Lahdetie, J.; Archer, H.; & Ala-Mello, S. (2010). Epilepsy caused by CDKL5 mutations. European Journal of Paediatric Neurology, 15(1), 65-69.
8. Cheadle, J. P.; Gill, H.; Fleming, N.; Maynard, J.; Kerr, A.; Leonard, H.; et al. (2000). Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location. Human Molecular Genetics, 9(7), 1119-1129. (Pubitemid 30216018)
9. Evans, J. C.; Archer, H. L.; Colley, J. P.; Ravn, K.; Nielsen, J. B.; Kerr, A.; et al. (2005). Early onset seizures and Rett-like features associated with mutations in CDKL5. European Journal of Human Genetics, 13(10), 1113-1120. (Pubitemid 41486221)
10. Hadzsiev, K.; Polgar, N.; Bene, J.; Komlosi, K.; Karteszi, J.; Hollody, K.; et al. (2011). Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. Journal of Human Genetics, 56(3), 183-187.
11. Hagberg, B. A.; & Skjeldal, O. H. (1994). Rett variants: A suggested model for inclusion criteria. Pediatric Neurology, 11(1), 5-11. (Pubitemid 24267725)
12. Hanefeld, F. (1985). The clinical pattern of the Rett syndrome. Brain Development, 7(3), 320-325. (Pubitemid 15239580)
13. Jayaram, B.; Dhingra, P.; Lakhani, B.; & Shekhar, S. (2012). Bhageerath - Targeting the near impossible: Pushing the frontiers of atomic models for protein tertiary structure prediction. Journal of Chemical Sciences, 124(1), 83-91.
14. Mari, F.; Azimonti, S.; Bertani, I.; Bolognese, F.; Colombo, E.; Caselli, R.; et al. (2005). CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Human Molecular Genetics, 14(14), 1935-1946. (Pubitemid 41418030)
15. Montini, E.; Andolfi, G.; Caruso, A.; Buchner, G.; Walpole, S. M.; Mariani, M.; et al. (1998). Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. Genomics, 51(3), 427-433. (Pubitemid 28413209)
16. Rosas-Vargas, H.; Bahi-Buisson, N.; Philippe, C.; Nectoux, J.; Girard, B.; N'Guyen Morel, M. A.; et al. (2008). Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. Journal of Medical Genetics, 45(3), 172-178. (Pubitemid 351373747)
17. Roy, A.; Kucukural, A.; & Zhang, Y. (2010). I-TASSER: A unified platform for automated protein structure and function prediction. Nature Protocol, 5(4), 725-738.
18. Rusconi, L.; Salvatoni, L.; Giudici, L.; Bertani, I.; Kilstrup-Nielsen, C.; Broccoli, V.; et al. (2008). CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail. Journal of Biological Chemistry, 283(44), 30101-30111.
19. Scala, E.; Ariani, F.; Mari, F.; Caselli, R.; Pescucci, C.; Longo, I.; et al. (2005). CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. Journal of Medical Genetics, 42(2), 103-107. (Pubitemid 40204363)
20. Tao, J.; Van Esch, H.; Hagedorn-Greiwe, M.; Hoffmann, K.; Moser, B.; Raynaud, M.; et al. (2004). Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. American Journal of Human Genetics, 75(6), 1149-1154. (Pubitemid 39532084)
21. Van Esch, H.; Jansen, A.; Bauters, M.; Froyen, G.; & Fryns, J. P. (2007). Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. American Journal of Medical Genetics Part A, 143(4), 364-369. (Pubitemid 46214200)
22. Villard, L.; Kpebe, A.; Cardoso, C.; Chelly, B.; Tardieu, P.; & Fontes, M. (2000). Two affected boys in a Rett syndrome family. Neurology, 55(8), 1188-1193.
23. Weaving, L. S.; Christodoulou, J.; Williamson, S. L.; Friend, K. L.; McKenzie, O. L. D.; Archer, H.; et al. (2004). Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. American Journal of Human Genetics, 75(6), 1079-1093. (Pubitemid 39532075)
24. Zoghbi, H. Y.; Percy, A. K.; Schultz, R. J.; & Fill, C. (1990). Patterns of X chromosome inactivation in the Rett syndrome. Brain Development, 12(1), 131-135. (Pubitemid 20119245)