Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 153, Issue 1, 2010, Pages 202-207

  Bahi Buisson, Nadia ^a,b,c   Girard, Benoit ^d   Gautier, Agnes ^e   Nectoux, Juliette ^b,c,d   Fichou, Yann ^b,c   Saillour, Yoann ^b,c   Poirier, Karine ^b,c   Chelly, Jamel ^b,c,d   Bienvenu, Thierry ^b,c,d  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSTITUT COCHIN   (France)

^c INSERM   (France)

^d université Paris Cité   (France)

^e NANTES UNIVERSITY HOSPITAL   (France)

Author keywords

CDKL5; Encephalopathy; MECP2; Microdeletion; Rett syndrome; Seizures; Xp22

Indexed keywords

CLOBAZAM; CYCLIN DEPENDENT KINASE 5; PHENYTOIN; PYRIDOXINE; TOPIRAMATE; VALPROIC ACID;

ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; CHROMOSOME DELETION; CHROMOSOME XP; CLINICAL FEATURE; CODING; DECELERATION; DNA MICROARRAY; EPILEPSY; EPILEPTIC ENCEPHALOPATHY; EXON; EYE; FEMALE; GAZE; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HAND; HEAD; HUMAN; INFANTILE SPASM; LANGUAGE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE HYPOTONIA; MYOCLONUS EPILEPSY; NUCLEOTIDE SEQUENCE; ONSET AGE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; RETT SYNDROME; SEIZURE; STEREOTYPY; TONIC SEIZURE;

BRAIN DISEASES; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; EPILEPSY; EXONS; FEMALE; HUMANS; PROMOTER REGIONS, GENETIC; PROTEIN-SERINE-THREONINE KINASES;

EID: 73949149517     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30974     Document Type: Article

References (19)

1. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. 1992. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlate with X chromosome inactivation. Am J Hum Genet 51:1229-1239.
2. Archer HL, Evans JC, 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. Audrézet MP, Chen JM, Raguénès O, Chuzhanova N, Giteau K, Le Maréchal C, Quéŕe I, Cooper DN, Férec C. 2004. Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 23:343-357.
4. Bahi-Buisson N, Kaminska A, Boddaert N, Rio M, Afenjar A, Ǵerard M, Giuliano F, Motte J, Héron D, Morel MA, Plouin P, Richelme C, des Portes V, Dulac O, Philippe C, Chiron C, Nabbout R, Bienvenu T. 2008a. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia 49:1027-1037.
5. 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, Chelly J, Bienvenu T. 2008b. Key clinical features to identify girls with CDKL5 mutations. Brain 131:2647-2661.
6. 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.
7. Elia M, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci SA, Lo Giudice M, Fichera M. 2008. CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology 71:997-999.
8. 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. Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls. Eur J Hum Genet 13:124-126.
9. Fichou Y, Bieth E, Bahi-Buisson N, Nectoux J, Girard B, Chelly J, Chaix Y, Bienvenu T. 2008. De novo missense mutation in the CDKL5 gene in a boy with severe intractable epileptic encephalopathy. Neurology (correspondence) 71:997-999.
10. Hanefeld F. 1985. The clinical pattern of the Rett syndrome. Brain Dev 7:320-325.
11. Kornreich R, Bishop DF, Desnick RJ. 1990. Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene. J Biol Chem 265:9319-9326.
12. Krawczak M, Cooper DN. 1991. Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86:425-441.
13. 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.
14. Saillour Y, Cossée M, Leturcq F, Vasson A, Beugnet C, Poirier K, Commere V, Sublemontier S, Viel M, Letourneur F, Barbot JC, Deburgrave N, Chelly J, Bienvenu T. 2008. Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method. Hum Mutat 29:1083-1090.
15. 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.
16. 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 X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 75:1149-1154.
17. Van de Vosse E, Walpole SM, Nicolaou A, van der Bent P, Cahn A, Vaudin M, Ross MT, Durham J, Pavitt R, Wilkinson J, Grafham D, Bergen AA, van Ommen GJ, Yates JR, den Dunnen JT, Trump D. 1998. Characterization of SCML1, a new gene in Xp22, with homology to developmental polycomb genes. Genomics 49:96-102.
18. Van Esch H, Jansen A, Bauters M, Froyen G, Fryns JP. 2007. Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. Am J Med Genet A 143:364-369.
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. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 75:1079-1093.