SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome

Journal of Human Genetics

Volumn 56, Issue 12, 2011, Pages 846-851

  Hashimoto, Natsuko ^a   Kagitani Shimono, Kuriko ^a   Sakai, Norio ^a   Otomo, Takanobu ^a   Tominaga, Koji ^a   Nabatame, Shin ^a   Mogami, Yukiko ^b   Takahashi, Yukitoshi ^b   Imai, Katsumi ^b   Yanagihara, Keiko ^c   Okinaga, Takeshi ^a   Nagai, Toshisaburo ^a   Taniike, Masako ^a   Ozono, Keiichi ^a  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b SHIZUOKA INSTITUTE OF EPILEPSY AND NEUROLOGICAL DISORDERS   (Japan)

^c RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

Author keywords

glucose transporter 1 deficiency syndrome; mutation; SLC2A1

Indexed keywords

ANTICONVULSIVE AGENT; CORTICOTROPIN; GLUCOSE; GLUCOSE TRANSPORTER 1; PHENOBARBITAL;

ADOLESCENT; ARTICLE; ATAXIA; ATONIC SEIZURE; BLOOD BRAIN BARRIER; CEREBROSPINAL FLUID ANALYSIS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE SEQUENCE; GLUCOSE TRANSPORT; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; HUMAN; INBORN ERROR OF METABOLISM; INTRON; JAPANESE; KETOGENIC DIET; MALE; MISSENSE MUTATION; NONSENSE MUTATION; POINT MUTATION; PRESCHOOL CHILD; PROMOTER REGION; SCHOOL CHILD; SYMPTOM; TONIC SEIZURE;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; JAPAN; MALE; PEDIGREE; SYNDROME;

EID: 84255208767     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.115     Document Type: Article

References (19)

1. De Vivo, D. C., Trifiletti, R. R., Jacobson, R. I., Ronen, G. M., Behmand, R. A. & 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, 703-709 (1991).
2. Shows, T. B., Eddy, R. L., Byers, M. G., Fukushima, Y., Dehaven, C. R., Murray, J. C. et al. Polymorphic human glucose transporter gene (GLUT) is on chromosome 1p31.3- p35. Diabetes. 36, 546-549 (1987). (Pubitemid 18023203)
3. Fukumoto, H., Seino, S., Imura, H., Seino, Y. & Bell, G. I. Characterization and expression of human HepG2/erythrocyte glucose-transporter gene. Diabetes. 37, 657-661 (1988).
4. Seidner, G., Alvarez, M. G., Yeh, J. I., O'Driscoll, K. R., Klepper, J., Stump, T. S. et al. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet. 18, 188-191 (1998). (Pubitemid 28082472)
5. Levy, B., Wang, D., Ullner, P. M., Engelstad, K., Yang, H., Nahum, O. et al. Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis. Mol. Genet. Metab. 100, 129-135 (2010).
6. Klepper, J., Garcia-Alvarez, M., O'Driscoll, K. R., Parides, M. K., Wang, D., Ho, Y. Y. et al. Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter- protein syndrome. J. Clin. Lab. Anal. 13, 116-121 (1999). (Pubitemid 29207136)
7. Tao, T., Tanizawa, Y., Matsutani, A., Matsubara, A., Kaneko, T. & Kaku, K. HepG2/erythrocyte glucose transporter (GLUT1) gene in NIDDM: a population association study and molecular scanning in Japanese subjects. Diabetologia. 38, 942-947 (1995).
8. Schouten, J. P., McElgunn, C. J., Waaijer, R., Zwijnenburg, D., Diepvens, F. & Pals, G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic. Acids. Res. 30, e57 (2002).
9. Wang, D., Pascual, J. M., Yang, H., Engelstad, K., Jhung, S., Sun, R. P. et al. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann. Neurol. 57, 111-118 (2005). (Pubitemid 40053322)
10. Klepper, J. & Leiendecker, B. GLUT1 deficiency syndrome-2007 update. Dev. Med. Child. Neurol. 49, 707-716 (2007).
11. Zorzi, G., Castellotti, B., Zibordi, F., Gellera, C. & Nardocci, N. Paroxysmal movement disorders in GLUT1 deficiency syndrome. Neurology. 71, 146-148 (2008).
12. Rotstein, M., Engelstad, K., Yang, H., Wang, D., Levy, B., Chung, W. K. et al. Glut1 deficiency: inheritance pattern determined by haploinsufficiency. Ann. Neurol. 68, 955-958 (2010).
13. Mullen, S. A., Suls, A., De Jonghe, P., Berkovic, S. F. & Scheffer, I. E. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology. 75, 432-440 (2010).
14. De Vivo, D. C. & Wang, D. Glut1 deficiency: CSF glucose. How low is too low? Rev. Neurol. (Paris). 164, 877-880 (2008).
15. Wang, D., Yang, H., Shi, L., Ma, L., Fujii, T., Engelstad, K. et al. Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M. Pediatr. Res. 64, 538-543 (2008).
16. Leen, W. G., Klepper, J., Verbeek, M. M., Leferink, M., Hofste, T., van Engelen, B. G. et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain. 133, 655-670 (2010).
17. Haga, H., Yamada, R., Ohnishi, Y., Nakamura, Y. & Tanaka, T. Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190,562 genetic variations in the human genome. J. Hum. Genet. 47, 605-610 (2002). (Pubitemid 36083261)
18. Fujii, T., Morimoto, M., Yoshioka, H., Ho, Y. Y., Law, P. P., Wang, D. et al. T295Massociated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptake. Brain. Dev. 33, 316-320 (2011).
19. McAllister, M. S., Krizanac-Bengez, L., Macchia, F., Naftalin, R. J., Pedley, K. C., Mayberg, M. R. et al. Mechanisms of glucose transport at the blood-brain barrier: an in vitro study. Brain. Res. 409, 20-30 (2001). (Pubitemid 32545351)