Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

Genetics in Medicine

Volumn 13, Issue 5, 2011, Pages 447-452

  Bartnik, Magdalena ^a   Derwińska, Katarzyna ^a   Gos, Monika ^a   Obersztyn, Ewa ^a   Kołodziejska, Katarzyna E ^b   Erez, Ayelet ^b   Szpecht Potocka, Agnieszka ^a   Fang, Ping ^b   Terczyńska, Iwona ^a   Mierzewska, Hanna ^a   Lohr, Naomi J ^c   Bellus, Gary A ^c   Reimschisel, Tyler ^d   Bocian, Ewa ^a   Mazurczak, Tadeusz ^a   Cheung, Sau Wai ^b   Stankiewicz, Paweł ^a,b  

^a INSTITUTE OF MOTHER AND CHILD   (Poland)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c Children's Hospital Colorado   (United States)

^d VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

array CGH; CDKL5; RTT like phenotype; seizures; severe psychomotor retardation

Indexed keywords

CLONAZEPAM; CYCLIN DEPENDENT KINASE 5; DIAZEPAM; ETIRACETAM; FELBAMATE; FOLINIC ACID; LAMOTRIGINE; OXCARBAZEPINE; PHENOBARBITAL; PYRIDOXINE;

ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DNA MICROARRAY; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENE TARGETING; GENETIC ASSOCIATION; HUMAN; INTRACTABLE EPILEPSY; MALE; MOSAICISM; PHENOTYPE; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; RETT SYNDROME; SCHOOL CHILD; SEIZURE; X CHROMOSOME LINKED DISORDER;

AGE OF ONSET; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; EXONS; FEMALE; GENE ORDER; HUMANS; INFANT; MALE; MOSAICISM; PROTEIN-SERINE-THREONINE KINASES; SEIZURES; SEQUENCE DELETION;

EID: 79955884102     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31820605f5     Document Type: Article

References (26)

1. Bahi-Buisson N, Nectoux J, Rosas-Vargas H, et al. Key clinical features to identify girls with CDKL5 mutations. Brain 2008;131:2647-2661.
2. Montini E, Andolfi G, Caruso A, et al. Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. Genomics 1998;51:427-433. (Pubitemid 28413209)
3. Sprovieri T, Conforti FL, Fiumara A, et al. A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. Am J Med Genet A 2009;149A:722-725.
4. Lin C, Franco B, Rosner MR. CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders. Hum Mol Genet 2005;14:3775-3786. (Pubitemid 43020080)
5. 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. (Pubitemid 41418030)
6. Russo S, Marchi M, Cogliati F, et al. Novel mutations in the CDKL5 gene, predicted effects and associatedphenotypes. Neurogenetics 2009;10:241-250.
7. 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 2009;153B:202-207.
8. Erez A, Patel AJ, Wang X, et al. Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. Neuroge-netics 2009;10:363-369.
9. 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.
10. 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.
11. Sartori S, Di Rosa G, Polli R, et al. A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. Am J Med Genet A 2009;149A:232-236.
12. 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. (Pubitemid 39532075)
13. Masliah-Plachon J, Auvin S, Nectoux J, et al. Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males. Am J Med Genet A 2010;152A:2110-2111.
14. Van Esch H, Jansen A, Bauters M, et al. Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. Am J Med Genet A 2007;143:364-369. (Pubitemid 46214200)
15. Huopaniemi L, Tyynismaa H, Rantala A, et al. Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families. Hum Mutat 2000;16:307-314.
16. El-Hattab AW, Smolarek TA, Walker ME, et al. Redefined genomic archi-tecture in 15q24 directed by patient deletion/duplication breakpoint map-ping. Hum Genet 2009;126:589-602.
17. Boone PM, Bacino CA, Shaw CA, et al. Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat 2010;31:1326-1342.
18. 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.
19. Bahi-Buisson N, Kaminska A, Boddaert N, et al. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia 2008;49:1027-1037. (Pubitemid 351793996)
20. Zhang F, Khajavi M, Connolly AM, et al. The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet 2009;41:849-853.
21. Vanneste E, Voet T, Le Caignec C, et al. Chromosome instability is common in human cleavage-stage embryos. Nat Med 2009;15:577-583.
22. Conlin LK, Thiel BD, Bonnemann CG, et al. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymor-phism array analysis. Hum Mol Genet 2010;19:1263-1275.
23. Ballif BC, Rorem EA, Sundin K, et al. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A 2006;140:2757-2767. (Pubitemid 44865062)
24. Cheung SW, Shaw CA, Scott DA, et al. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A 2007;143A:1679-1686. (Pubitemid 47217264)
25. Scott SA, Cohen N, Brandt T, et al. Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybrid-ization. Genet Med 2010;12:85-92.
26. Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with develop-mental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749-764.