A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe rett phenotype

American Journal of Medical Genetics, Part A

Volumn 149, Issue 4, 2009, Pages 722-725

  Sprovieri, T ^a   Conforti, F L ^a   Fiumara, A ^b   Mazzei, C ^a,c   Citrigno, L ^a,c   Muglia, M ^a   Arena, A ^b   Quattrone, A ^a,d  

^a INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^b UNIVERSITY OF CATANIA   (Italy)

^c UNIVERSITY OF MESSINA   (Italy)

^d UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

Author keywords

CDKL5 gene; CDKL5 phenotype; Mutational screening; Rett syndrome

Indexed keywords

CYCLIN DEPENDENT KINASE 5; METHYL CPG BINDING PROTEIN 2;

ADOLESCENT; ANAMNESIS; ARTICLE; BLOOD SAMPLING; BRAIN REGION; CASE REPORT; CONVULSION; DISEASE ASSOCIATION; EXON; FAMILY HISTORY; FEMALE; GENE MUTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFORMED CONSENT; MISSENSE MUTATION; MOLECULAR BIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; RETT SYNDROME; SEIZURE SUSCEPTIBILITY; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; AGE OF ONSET; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; EPILEPSY; FEMALE; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MUTATION, MISSENSE; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; RETT SYNDROME;

EID: 63749096191     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32711     Document Type: Article

References (20)

1. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. 1999. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23:185-188.
2. Archer HL, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J. 2006. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 43:729-734.
3. Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, Cances C, Ville D, Afenjar A, Rio M, Héron D, N'guyen Morel MA, Arzimanoglou A, Philippe C, Jonveaux P, ChellyJ, Bienvenu T. 2008. Key clinical features to identify girls with CDKL5 mutations. Brain 131: 2647-2661.
4. Buoni S, Zannolli R, Colamaria V, Macucci F, di Bartolo RM, Corbini L, Orsi A, Zappella M, Hayek J. 2006. Myoclonic encephalopathy in the CDKL5 gene mutation. Clin Neurophysiol 117:223-227.
5. Chahrour M, Zoghby HY. 2007. The story of Rett syndrome: From clinic to neurobiology. Neuron 56:422-437.
6. Conforti FL, Mazzei R, Magariello A, Patitucci A, Gabriele AL, Muglia M, Quattrone A, Fiumara A, Barone R, Pavone L, Nisticò R, Mangone L. 2003. Mutation analysis of the MECP2 gene in patients with Rett syndrome. Am J Med Genet Part A 117A:184-187.
7. Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ. 2005. Early onset seizures and Rett-like features associated with mutation in CDKL5. Eur J Hum Genet 13:1113-1120.
8. Grosso S, Brogna A, Bazzotti S, Renieri A, Morgese G, Balestri P. 2007. Seizures and electroencephalographic findings in CDKL5 mutations: Case report and review. Brain Dev 29:239-342.
9. Hagberg B. 1985. Rett's syndrome: Prevalence and impact on progressive severe mental retardation in girls. Acta Paediatr Scand 74:405-408.
10. Hagberg B, Hanefeld F, Percy A, Skjeldal O. 2002. An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September2001. Eur J Paediatr Neurol 6:293-297.
11. Hanefeld F. 1985. The clinical pattern of the Rett syndrome. Brain Dev 7:320-325.
12. Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Souherland GR, Ropers HH, Gecz J. 2003. Disruption of the serine/ threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 72:1401-1411.
13. Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N. 2005. 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 14:1935-1946.
14. Nectoux J, Heron D, Tallot M, Chelly J, Bienvenu T. 2006. Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. Clin Genet 70:29-33.
15. Pintaudi M, Baglietto MG, Gaggero R, Parodi E, Pessagno A, Marchi M, Russo S, Veneselli E. 2008. Clinical and electroencephalographic features in patients with CDKL5 mutations: Two new Italian cases and review of the literature. Epilepsy Behav 12:326-331.
16. Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N'Guyen Morel MA, Gitiaux C, Lazaro L, Odent S, Jonveaux P, Chelly J, Bienvenu T. 2008. Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. J Med Genet 45:172-178.
17. Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A. 2005. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet 42:103-107.
18. Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP, Schwinger E, Gécz J, Ropers HH, Kalscheuer VM. 2004. Mutations in the ×-linked cyclin-dependent kinase-like 5 (CDKL5/ STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 75:1149-1154.
19. Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gécz J. 2004. Mutation of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 75:1079-1093.
20. Weaving LS, Ellaway CJ, Gécz J, Christodoulou J. 2005. Rett syndrome: Clinical review and genetic update. J Med Genet 42:1-7.