Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis

Molecular Genetics and Metabolism

Volumn 100, Issue 2, 2010, Pages 129-135

  Levy, Brynn ^a   Wang, Dong ^a   Ullner, Paivi M ^a   Engelstad, Kristin ^a   Yang, Hong ^a   Nahum, Odelia ^a   Chung, Wendy K ^a   De Vivo, Darryl C ^a  

^a Columbia University ^*  (United States)

Author keywords

Glut 1 deficiency syndrome; Microdeletions; SNP oligonucleotide microarray analysis (SOMA)

Indexed keywords

GLUCOSE TRANSPORTER 1;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; CHILD; CLINICAL ARTICLE; COGNITIVE DEFECT; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EPILEPSY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; HUMAN; INBORN ERROR OF METABOLISM; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; MISSENSE MUTATION; MOTOR DYSFUNCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DISEASES IN TWINS; EPILEPSY; FEMALE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MALE; MICROCEPHALY; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION; SYNDROME; YOUNG ADULT;

EID: 77951975749     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.03.007     Document Type: Article

References (18)

1. De Vivo D.C., Trifiletti R.R., Jacobson R.I., Ronen G.M., Behmand R.A., and Harik S.I. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N. Engl. J. Med. 325 (1991) 703-709
2. Suls A., Dedeken P., Goffin K., Van Esch H., Dupont P., Cassiman D., Kempfle J., Wuttke T.V., Weber Y., Lerche H., et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 131 (2008) 1831-1844
3. Weber Y.G., Storch A., Wuttke T.V., Brockmann K., Kempfle J., Maljevic S., Margari L., Kamm C., Schneider S.A., Huber S.M., et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J. Clin. Invest. 118 (2008) 2157-2168
4. Wang D., Pascual J.M., Yang H., Engelstad K., Jhung S., Sun R.P., and De Vivo D.C. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann. Neurol. 57 (2005) 111-118
5. Klepper J., Diefenbach S., Kohlschutter A., and Voit T. Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome. Prostaglandins Leukot. Essent. Fatty Acids 70 (2004) 321-327
6. Pascual J.M., Wang D., Lecumberri B., Yang H., Mao X., Yang R., and De Vivo D.C. GLUT1 deficiency and other glucose transporter diseases. Eur. J. Endocrinol./Eur. Fed. Endocr. Soc. 150 (2004) 627-633
7. Priest J.H. In: Barch M.J., Knutsen T., and Spurbeck J.L. (Eds). The AGT Cytogenetics Laboratory Manual (1997), Lippincott-Raven, New York 173-197
8. Kaufmann P., Shungu D.C., Sano M.C., Jhung S., Engelstad K., Mitsis E., Mao X., Shanske S., Hirano M., DiMauro S., et al. Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurology 62 (2004) 1297-1302
9. Seidner G., Alvarez M.G., Yeh J.I., O'Driscoll K.R., Klepper J., Stump T.S., Wang D., Spinner N.B., Birnbaum M.J., and De Vivo D.C. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat. Genet. 18 (1998) 188-191
10. Stewart W.A., Gordon K., and Camfield P. Acute pancreatitis causing death in a child on the ketogenic diet. J. Child. Neurol. 16 (2001) 682
11. Aradhya S., Manning M.A., Splendore A., and Cherry A.M. Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features. Am. J. Med. Genet. 143A (2007) 1431-1441
12. Redon R., Baujat G., Sanlaville D., Le Merrer M., Vekemans M., Munnich A., Carter N.P., Cormier-Daire V., and Colleaux L. Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur. J. Hum. Genet. 14 (2006) 759-767
13. Friedman J.M., Baross A., Delaney A.D., Ally A., Arbour L., Armstrong L., Asano J., Bailey D.K., Barber S., Birch P., et al. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am. J. Hum. Genet. 79 (2006) 500-513
14. Schoumans J., Ruivenkamp C., Holmberg E., Kyllerman M., Anderlid B.M., and Nordenskjold M. Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J. Med. Genet. 42 (2005) 699-705
15. Shaw-Smith C., Redon R., Rickman L., Rio M., Willatt L., Fiegler H., Firth H., Sanlaville D., Winter R., Colleaux L., et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J. Med. Genet. 41 (2004) 241-248
16. Tzschach A., Menzel C., Erdogan F., Schubert M., Hoeltzenbein M., Barbi G., Petzenhauser C., Ropers H.H., Ullmann R., and Kalscheuer V. Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH. Am. J. Med. Genet. 143 (2007) 333-337
17. Vermeer S., Koolen D.A., Visser G., Brackel H.J., van der Burgt I., de Leeuw N., Willemsen M.A., Sistermans E.A., Pfundt R., and de Vries B.B. A novel microdeletion in 1 (p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development. Dev. Med. Child Neurol. 49 (2007) 380-384
18. Dipple K.M., and McCabe E.R. Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am. J. Hum. Genet. 66 (2000) 1729-1735