The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

European Journal of Human Genetics

Volumn 21, Issue 3, 2013, Pages 266-273

  Fehr, Stephanie ^a   Wilson, Meredith ^b,c   Downs, Jenny ^a,d   Williams, Simon ^e   Murgia, Alessandra ^f   Sartori, Stefano ^f   Vecchi, Marilena ^f   Ho, Gladys ^b,c   Polli, Roberta ^f   Psoni, Stavroula ^g   Bao, Xinhua ^h   De Klerk, Nick ^a   Leonard, Helen ^a   Christodoulou, John ^b,c  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d CURTIN UNIVERSITY   (Australia)

^e PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

^f UNIVERSITY OF PADOVA   (Italy)

^g UNIVERSITY OF ATHENS   (Greece)

^h PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

CDKL5; dysmorphology; natural history; phenotype; Rett syndrome

Indexed keywords

CYCLIN DEPENDENT KINASE; CYCLIN DEPENDENT KINASE LIKE 5; METHYL CPG BINDING PROTEIN 2; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BIRTH; CHILD; DEVELOPMENTAL DISORDER; FEMALE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; SCHOOL CHILD; SEIZURE; SLEEP DISORDER;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; FACE; FEMALE; HAND; HUMANS; INFANT; LOGISTIC MODELS; MALE; METHYL-CPG-BINDING PROTEIN 2; MUTATION; PROTEIN-SERINE-THREONINE KINASES; RETT SYNDROME; SEIZURES; YOUNG ADULT;

EID: 84874104782     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.156     Document Type: Article

References (49)

1. 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.
2. Tao J, Van Esch H, Hagedorn-Greiwe M et al: Mutations in the X-linked cyclindependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 2004; 75: 1149-1154.
3. 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.
4. 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.
5. 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.
6. Bertani I, Rusconi L, Bolognese F et al: Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. J Biol Chem 2006; 281: 32048-32056.
7. Jansen A, Bauters M, De Rademaeker M et al: Epileptic encephalopathy in a boy with an interstitial deletion of Xp22 comprising the CDKL5 gene. Epilepsia 2006; 47: 367-367.
8. Nectoux J, Heron D, Tallot M, Chelly J, Bienvenu T: Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. Clin Genet 2006; 70: 29-33.
9. Van Esch H, Jansen A, Bauters M, Froyen G, Fryns JP: Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. Am J Med Genet 2007; 143A: 364-369.
10. Grosso S, Brogna A, Bazzotti S, Renieri A, Morgese G, Balestri P: Seizures and electroencephalographic findings in CDKL5 mutations: case report and review. Brain Dev 2007; 29: 239-242.
11. Bahi-Buisson N, Nectoux J, Rosas-Vargas H et al: Key clinical features to identify girls with CDKL5 mutations. Brain 2008; 131: 2647-2661.
12. Bahi-Buisson N, Kaminska A, Boddaert N et al: The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia 2008; 49: 1027-1037.
13. Elia M, Falco M, Ferri R et al: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology 2008; 71: 997-999.
14. Rosas-Vargas H, Bahi-Buisson N, Philippe C et al: Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. J Med Genet 2008; 45: 172-178.
15. Fichou Y, Bieth E, Bahi-Buisson N et al: Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology 2009; 73: 77-78, (author reply 78).
16. Nemos C, Lambert L, Giuliano F et al: Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clin Genet 2009; 76: 357-371.
17. Psoni S, Willems PJ, Kanavakis E et al: A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder. Eur J Paediatr Neurol 2010; 14: 188-191.
18. Russo S, Marchi M, Cogliati F et al: Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics 2009; 10: 241-250.
19. Saitsu H, Osaka H, Nishiyama K et al: A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5. Brain Dev 2012; 34: 364-367.
20. Erez A, Patel AJ, Wang X et al: Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. Neurogenetics 2009; 10: 363-369.
21. Sprovieri T, Conforti FL, Fiumara A et al: A novel mutation in the X-linked cyclindependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. Am J Med Genet A 2009; 149A: 722-725.
22. Artuso R, Mencarelli MA, Polli R et al: Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain Dev 2010; 32: 17-24.
23. Bahi-Buisson N, Girard B, Gautier A et al: Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene. Am J Med Genet B Neuropsychiatr Genet 2010; 153B: 202-207.
24. Coppola G, Grosso S, Verrotti A, D'Aniello A, Pascotto A: Simultaneous onset of infantile spasms in monozygotic twins. Pediatr 2010; 43: 127-130.
25. Cordova-Fletes C, Rademacher N, Muller I et al: CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome. Clin Genet 2010; 77: 92-96.
26. Hadzsiev K, Polgar N, Bene J et al: Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. J Hum Genet 2011; 56: 183-187.
27. Masliah-Plachon J, Auvin S, Nectoux J, Fichou Y, Chelly J, Bienvenu T: Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males. Am J Med Genet 2010; 152A: 2110-2111.
28. Mei D, Marini C, Novara F et al: Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia 2010; 51: 647-654.
29. White R, Ho G, Schmidt S et al: Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Res Hum Genet 2010; 13: 168-178.
30. Castrén M, Gaily E, Tengström C, Lähdetie J, Archer H, Ala-Mello S: Epilepsy caused by CDKL5 mutations. Eur J Paediatr Neurol 2011; 15: 65-69.
31. Melani F, Mei D, Pisano T et al: CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Dev Med Child Neurol 2011; 53: 354-360.
32. Sartori S, Polli R, Bettella E et al: Pathogenic Role of the X-Linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life. J Child Neurol 2011; 26: 683-691.
33. Rademacher N, Hambrock M, Fischer U et al: Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics 2011; 12: 165-167.
34. Klein KM, Yendle S, Harvey A et al: A distinctive seizure type in patients with CDKL5 mutations: hypermotor-tonic-spasms sequence. Neurology 2011; 76: 1436-1438.
35. Bartnik M, Derwinska K, Gos M et al: Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. Genet Med 2011; 13: 447-452.
36. Stalpers XL, Spruijt L, Yntema HG, Verrips A: Clinical phenotype of 5 females with a CDKL5 mutation. J Child Neurol 2012; 27: 90-93.
37. Liang JS, Shimojima K, Takayama R et al: CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia 2011; 52: 1835-1842.
38. Intusoma U, Hayeeduereh F, Plong-On O et al: Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity. Eur J Paediatr Neurol 2011; 15: 432-438.
39. Hanefield F: The clinical pattern of the Rett syndrome. Brain Dev 1985; 7: 320-325.
40. Neul JL, Kaufmann WE, Glaze DG et al: Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 2010; 68: 944-950.
41. Bebbington A, Anderson A, Ravine D et al: Investigating genotype-phenotype relationships in Rett syndrome using an international dataset. Neurology 2008; 70: 868-875.
42. WHO multicentre growth reference study group. WHO Motor Development Study: windows of achievement for six gross motor development milestones. Acta Paediatr 2006; 95: 86-95.
43. Kankirawatana P, Leonard H, Ellaway C et al: Early progressive encephalopathy in boys and MECP2 mutations. Neurology 2006; 67: 164-166.
44. Kortüm F, Das S, Flindt M et al: The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet 2011; 48: 396.
45. Marangi G, Ricciardi S, Orteschi D et al: The Pitt Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. Am J Med Genet 2011; 155A: 1536-1545.
46. Scheffer I, Brett E, Wilson J, Baraitser M: Angelman's syndrome. J Med Genet 1990; 27: 275.
47. Allanson JE, Hennekam R, Moog U, Smeets EE: Rett syndrome: a study of the face. Am J Med Genet 2011; 155A: 1563-1567.
48. Fehr S, Bebbington A, Ellaway C, Rowe P, Leonard H, Downs J: Altered attainment of developmental milestones influences the age of diagnosis of Rett syndrome. J Child Neurol 2011; 26: 980-987.
49. Leonard H, Bower C: Is the girl with Rett syndrome normal at birth? Dev Med Child Neurol 1998; 40: 115-121.