Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene

European Journal of Medical Genetics

Volumn 56, Issue 10, 2013, Pages 551-555

  Bayindir, Baran ^a   Piazza, Elena ^a   Della Mina, Erika ^a   Limongelli, Ivan ^a   Brustia, Francesca ^a   Ciccone, Roberto ^a   Veggiotti, Pierangelo ^a   Zuffardi, Orsetta ^a   Dehghani, Mohammed Reza ^a  

^a UNIVERSITY OF PAVIA   (Italy)

Author keywords

Der(4)t(4; 8)(p16.3,p23.3); Dravet syndrome; WHS

Indexed keywords

BENZODIAZEPINE; CLOBAZAM; DNA; OXCARBAZEPINE; VALPROIC ACID;

ABSENCE; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 4P; CHROMOSOME 8P; CHROMOSOME DELETION 4; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CHROMOSOME TRANSLOCATION 4; CHROMOSOME TRANSLOCATION 8; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL COORDINATION DISORDER; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAM; EXON; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOCAL EPILEPSY; GENE; HUMAN; HYPERPYREXIA; INFANT; LETM1 GENE; MUSCLE HYPOTONIA; PATHOGENESIS; PHENOTYPE; PRESCHOOL CHILD; SCHOOL CHILD; SEVERE MYOCLONIC EPILEPSY IN INFANCY; TONIC CLONIC SEIZURE; TREMOR;

DER(4)T(4;8)(P16.3,P23.3); DRAVET SYNDROME; WHS;

ANTICONVULSANTS; CALCIUM-BINDING PROTEINS; CHILD; CHROMOSOMES, HUMAN, PAIR 4; EPILEPSIES, MYOCLONIC; FEMALE; HUMANS; MEMBRANE PROTEINS; PHENOTYPE; TRANSLOCATION, GENETIC; TREATMENT OUTCOME; VALPROIC ACID;

EID: 84885382157     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.08.003     Document Type: Article

References (21)

1. Wieczorek D., Krause M., Majewski F., et al. Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS). J.Med. Genet. 2000, 37:798-804.
2. Zollino M., Murdolo M., Marangi G., et al. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. Am. J. Med. Genet. Part C Semin. Med. Genet. 2008, 148C:257-269.
3. Giglio S., Calvari V., Gregato G., et al. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am. J. Hum. Genet. 2002, 71:276-285.
4. Endele S., Fuhry M., Pak S.J., Zabel B.U., Winterpacht A. LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients. Genomics 1999, 60:218-225.
5. Maas N.M., Van Buggenhout G., Hannes F., et al. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). J.Med. Genet. 2008, 45:71-80.
6. South S.T., Bleyl S.B., Carey J.C. Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation. Am. J. Med. Genet. Part A 2007, 143A:2137-2142.
7. Harkin L.A., McMahon J.M., Iona X., et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain A J. Neurol. 2007, 130:843-852.
8. Claes L., Del-Favero J., Ceulemans B., Lagae L., Van Broeckhoven C., De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 2001, 68:1327-1332.
9. Kwong A.K., Fung C.W., Chan S.Y., Wong V.C. Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. PLoS One 2012, 7:e41802.
10. Lemke J.R., Riesch E., Scheurenbrand T., et al. Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia 2012, 53:1387-1398.
11. Battaglia D., Zampino G., Zollino M., et al. Electroclinical patterns and evolution of epilepsy in the 4p-syndrome. Epilepsia 2003, 44:1183-1190.
12. Wright T.J., Ricke D.O., Denison K., et al. Atranscript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum. Mol. Genet. 1997, 6:317-324.
13. Zollino M., Lecce R., Fischetto R., et al. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am. J. Hum. Genet. 2003, 72:590-597.
14. Rodriguez L., Zollino M., Climent S., et al. The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case. Am. J. Med. Genet. Part A 2005, 136:175-178.
15. South S.T., Whitby H., Battaglia A., Carey J.C., Brothman A.R. Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. Eur. J. Hum. Genet. 2008, 16:45-52.
16. Misceo D., Baroy T., Helle J.R., Braaten O., Fannemel M., Frengen E. 1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development. Gene 2012, 507:85-91.
17. Faravelli F., Murdolo M., Marangi G., Bricarelli F.D., Di Rocco M., Zollino M. Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes. Am. J. Med. Genet. Part A 2007, 143A:1169-1173.
18. Engbers H., van der Smagt J.J., van 't Slot R., Vermeesch J.R., Hochstenbach R., Poot M. Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions. Eur. J. Hum. Genet. 2009, 17:129-132.
19. Engelen J.J., Moog U., Evers J.L., Dassen H., Albrechts J.C., Hamers A.J. Duplication of chromosome region 8p23.1 p23.3: a benign variant?. Am. J. Med. Genet. 2000, 91:18-21.
20. Sklower Brooks S.S., Genovese M., Gu H., Duncan C.J., Shanske A., Jenkins E.C. Normal adaptive function with learning disability in duplication 8p including band p22. Am. J. Med. Genet. 1998, 78:114-117.
21. Nakano Y., Fujita M., Ogino K., et al. Biogenesis of GPI-anchored proteins is essential for surface expression of sodium channels in zebrafish Rohon-Beard neurons to respond to mechanosensory stimulation. Development 2010, 137:1689-1698.