Duplication of the VHL and IRAK2 genes in a patient with mental retardation/multiple congenital anomalies, epilepsy and ectomorphic habitus

Genetic Counseling

Volumn 21, Issue 1, 2010, Pages 35-40

  Chabchoub, E ^a   Mchils, G ^a   Vermeesch, J R ^a   De Cock, P ^b   Lagae, L ^b   Fryns, J P ^a  

^a Centre for Human Genetics   (Germany)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

ACGH; Epigenetics; Epilepsy; GHRL; IRAK2; Mental retardation; MLPA; Multiple congenital anomalies; VHL

Indexed keywords

INTERLEUKIN 1 RECEPTOR ASSOCIATED KINASE 2; OXCARBAZEPINE; VALPROIC ACID; VON HIPPEL LINDAU PROTEIN;

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME; CHROMOSOME 3P; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; ELECTROENCEPHALOGRAM; EPILEPSY; FACE DYSMORPHIA; FOLLOW UP; FUNNEL CHEST; GENE; GENE DUPLICATION; GENOTYPE; HUMAN; KYPHOSCOLIOSIS; MALE; MENTAL DEFICIENCY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ORCHIDOPEXY; PHENOTYPE; PROGNOSIS; SPASTIC PARAPLEGIA;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHROMOSOMES, HUMAN, PAIR 3; EPILEPSY; GENE DUPLICATION; GHRELIN; HUMANS; INTERLEUKIN-1 RECEPTOR-ASSOCIATED KINASES; MALE; MENTAL RETARDATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SOMATOTYPES; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 77950841027     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. ALBENSI B. C.: Potential roles for tumor necrosis factor and nuclear factor-kappaB in seizure activity. J. Neurosci. Res., 2001, 66, 151-154.
2. BARBER J. C.: Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med. Genet., 2005, 42, 609-629.
3. BEN MENACHEM E.: Weightissues for people with epilepsy-a review. Epilepsia, 2007, 48 (Suppl 9), 42-45.
4. BITTEL D. C., KIBIRYEVA N., DASOUKI M., KNOLL J. H., BUTLER M. G.: A 9-year-old male with a duplication of chromosome 3p25.3p26.2: clinical report and gene expression analysis. Am. J. Med. Genet. A, 2006, 140, 573-579.
5. CHABCHOUB E., RODRIGUEZ L., GALAN E., MANSILLA E., MARTINEZ-FERNANDEZ M. L., MARTINEZ-FRIAS M. L., FRYNS J. P., VERMEESCH J. R.: Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation. J. Med. Genet., 2007, 44, 250-256.
6. ENGEL J., JR.: A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia, 2001, 42, 796-803.
7. HECKSCHER E. S., FETTER R. D., MAREK K. W., ALBIN S. D., DAVIS G. W.: NF-kappaB, IkappaB, and IRAK control glutamate receptor density at the Drosophila NMJ. Neuron, 2007, 55, 859-873.
8. JOERGER M., KOEBERLE D., NEUMANN H. P., GILLESSEN S.: Von Hippel-Lindau disease-a rare disease important to recognize. Onkologie, 2005, 28, 159-163.
9. KEATING S. E., MALONEY G. M., MORAN E. M., BOWIE A. G.: IRAK-2 participates in multiple tolllike receptor signaling pathways to NFkappaB via activation of TRAF6 ubiquitination. J. Biol. Chem., 2007, 252, 33435-33443.
10. LEE C., IAFRATE A. J., BROTHMAN A. R.: Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet., 2007, 39, S48-S54. (Pubitemid 47014476)
11. LIU G., PARK Y. J., ABRAHAM E.: Interleukin-1 receptor-associated kinase (IRAK)-1-mediated NF-kappaB activation requires cytosolic and nuclear activity. FASEB J., 2008, 22, 2285-2296.
12. SCHINZEL A. (ED.).: Catalogue of Unbalanced Chromosome Aberrations in Man. Berlin, New York, Walter de Gruyter, 2001.