4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

European Journal of Medical Genetics

Volumn 52, Issue 6, 2009, Pages 440-442

  Yeung, Alison ^a,b   Bruno, Damien ^a,b   Scheffer, Ingrid E ^b   Carranza, Daniel ^b   Burgess, Trent ^a,b   Slater, Howard R ^a,b   Amor, David J ^a,b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Epilepsy; FOXG1; Intellectual disability; Microduplication; Rett syndrome

Indexed keywords

DNA; ETIRACETAM; STEROID; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXG1; UNCLASSIFIED DRUG; VIGABATRIN; FORKHEAD TRANSCRIPTION FACTOR; FOXG1 PROTEIN, HUMAN; NERVE PROTEIN;

ARTICLE; BRAIN DEVELOPMENT; CASE REPORT; CHILD; CHROMOSOME 14Q; CHROMOSOME BAND; CHROMOSOME DUPLICATION; DISEASE SEVERITY; FEMALE; GENERALIZED EPILEPSY; HUMAN; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; MICROARRAY ANALYSIS; SCHOOL CHILD; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; TERATOLOGY; CHROMOSOME 14; CHROMOSOME BANDING PATTERN; EPILEPSY; GENE DUPLICATION; GENETICS; MENTAL DEFICIENCY;

CHILD; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 14; EPILEPSY; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENE DUPLICATION; HUMANS; MENTAL RETARDATION; NERVE TISSUE PROTEINS;

EID: 70350621757     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.09.004     Document Type: Article

References (12)

1. Ariani F., Hayek G., Rondinella D., Artuso R., Mencarelli M.A., Spanhol-Rosseto A., Pollazzon M., Buoni S., Spiga O., Ricciardi S., Meloni I., Longo I., Mari F., Broccoli V., Zappella M., and Renieri A. FOXG1 is responsible for the congenital variant of Rett syndrome. Am. J. Hum. Genet. 83 (2008) 89-93
2. Bisgaard A.M., Kirchhoff M., Tumer Z., Jepsen B., Brondum-Nielsen K., Cohen M., Hamborg-Petersen B., Bryndorf T., Tommerup N., and Skovby F. Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features. Am. J. Med. Genet. 140 (2006) 2180-2187
3. Mencarelli M.A., Kleefstra T., Katzaki E., Papa F.T., Cohen M., Pfundt R., Ariani F., Meloni I., Mari F., and Renieri A. 14q12 Microdeletion syndrome and congenital variant of Rett syndrome. Eur. J. Med. Genet. 52 (2009) 148-152
4. Papa F.T., Mencarelli M.A., Caselli R., Katzaki E., Sampieri K., Meloni I., Ariani F., Longo I., Maggio A., Balestri P., Grosso S., Farnetani M.A., Berardi R., Mari F., and Renieri A. A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. Am. J. Med. Genet. 146A (2008) 1994-1998
5. McCarroll S.A., Kuruvilla F.G., Korn J.M., Cawley S., Nemesh J., Wysoker A., Shapero M.H., de Bakker P.I., Maller J.B., Kirby A., Elliott A.L., Parkin M., Hubbell E., Webster T., Mei R., Veitch J., Collins P.J., Handsaker R., Lincoln S., Nizzari M., Blume J., Jones K.W., Rava R., Daly M.J., Gabriel S.B., and Altshuler D. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat. Genet. 40 (2008) 1166-1174
6. Bahi-Buisson N., Kaminska A., Boddaert N., Rio M., Afenjar A., Gerard M., Giuliano F., Motte J., Heron D., Morel M.A., Plouin P., Richelme C., des Portes V., Dulac O., Philippe C., Chiron C., Nabbout R., and Bienvenu T. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia 49 (2008) 1027-1037
7. Hanashima C., Li S.C., Shen L., Lai E., and Fishell G. Foxg1 suppresses early cortical cell fate. Science (New York, N.Y.) 303 (2004) 56-59
8. Seoane J., Le H.V., Shen L., Anderson S.A., and Massague J. Integration of Smad and forkhead pathways in the control of neuroepithelial and glioblastoma cell proliferation. Cell 117 (2004) 211-223
9. Collins A.L., Levenson J.M., Vilaythong A.P., Richman R., Armstrong D.L., Noebels J.L., David Sweatt J., and Zoghbi H.Y. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum. Mol. Genet. 13 (2004) 2679-2689
10. Van Esch H., Bauters M., Ignatius J., Jansen M., Raynaud M., Hollanders K., Lugtenberg D., Bienvenu T., Jensen L.R., Gecz J., Moraine C., Marynen P., Fryns J.P., and Froyen G. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am. J. Hum. Genet. 77 (2005) 442-453
11. Jensen K.B., Dredge B.K., Stefani G., Zhong R., Buckanovich R.J., Okano H.J., Yang Y.Y., and Darnell R.B. Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability. Neuron 25 (2000) 359-371
12. Robertson N.G., Lu L., Heller S., Merchant S.N., Eavey R.D., McKenna M., Nadol Jr. J.B., Miyamoto R.T., Linthicum Jr. F.H., Lubianca Neto J.F., Hudspeth A.J., Seidman C.E., Morton C.C., and Seidman J.G. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nat. Genet. 20 (1998) 299-303