A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations

BMC Medical Genetics

Volumn 11, Issue 1, 2010, Pages

  Yamada, Kenichiro ^a   Miura, Kiyokuni ^a   Hara, Kenju ^b   Suzuki, Motomasa ^a   Nakanishi, Keiko ^a   Kumagai, Toshiyuki ^a   Ishihara, Naoko ^a   Yamada, Yasukazu ^a   Kuwano, Ryozo ^b   Tsuji, Shoji ^c   Wakamatsu, Nobuaki ^a  

^a INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^b NIIGATA UNIVERSITY   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; REDUCED FOLATE CARRIER; SOLUTE CARRIER FAMILY 19 MEMBER 3; UNCLASSIFIED DRUG; CARRIER PROTEIN; SLC19A3 PROTEIN, HUMAN; THIAMINE;

ADULT; ARTICLE; BRAIN ATROPHY; BRAIN DAMAGE; CHILD; CHROMOSOME 2Q; CLINICAL ARTICLE; DRUG MEGADOSE; EPILEPSY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HETEROZYGOTE; HUMAN; JAPANESE; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; WERNICKE ENCEPHALOPATHY; ADOLESCENT; ASIAN; BRAIN; EXTRAPYRAMIDAL SYNDROME; FEMALE; GENETICS; MUTATION; PATHOLOGY;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASAL GANGLIA DISEASES; BIOTIN; BRAIN; CHILD; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; THIAMINE; WERNICKE ENCEPHALOPATHY;

EID: 78650295909     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-11-171     Document Type: Article

References (16)

1. Dixon KH, Lampher BC, Chiu J, Kelley K, Cowan KH. A novel cDNA restores reduced folate carrier activity and methotrexate sensitivity to transport deficient cells. J Biol Chem 1994, 269:17-20.
2. Labay V, Raz T, Baron D, Mandel H, Williams H, Barrett T, Szargel R, McDonald L, Shalata A, Nosaka K, Gregory S, Cohen N. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nat Genet 1999, 22:300-304. 10.1038/10372, 10391221.
3. Fleming JC, Tartaglini E, Steinkamp MP, Schorderet DF, Cohen N, Neufeld EJ. The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Nat Genet 1999, 22:305-308. 10.1038/10379, 10391222.
4. Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nat Genet 1999, 22:309-312. 10.1038/10385, 10391223.
5. Dutta B, Huang W, Molero M, Kekuda R, Leibach FH, Devoe LD, Ganapathy V, Prasad PD. Cloning of the human thiamine transporter, a member of the folate transporter family. J Biol Chem 1999, 274:31925-31929. 10.1074/jbc.274.45.31925, 10542220.
6. Eudy JD, Spiegelstein O, Barber RC, Wlodarczyk BJ, Talbot J, Finnell RH. Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes. Mol Genet Metab 2000, 71:581-590. 10.1006/mgme.2000.3112, 11136550.
7. Rajgopal A, Edmondnson A, Goldman ID, Zhao R. SLC19A3 encodes a second thiamine transporter ThTr2. Biochim Biophys Acta 2001, 1537:175-178.
8. Subramanian VS, Marchant JS, Said HM. Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. Am J Physiol Renal Physiol 2006, 291(5):C851-C859.
9. Ganapathy V, Smith SB, Prasad PD. SLC19: the folate/thiamine transporter family. Pflugers Arch 2004, 447:641-646. 10.1007/s00424-003-1068-1, 14770311.
10. Ozand PT, Gascon GG, Al Essa M, Joshi S, Jishi E, Bakheet S, Al Watban J, Al-Kawi MZ, Dabbagh O. Biotin-responsive basal ganglia disease: a novel entity. Brain 1998, 121:1267-1279. 10.1093/brain/121.7.1267, 9679779.
11. Zeng WQ, Al-Yamani E, Acierno JS, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet 2005, 77:16-26. 10.1086/431216, 1226189, 15871139.
12. Kono S, Miyajima H, Yoshida K, Togawa A, Shirakawa K, Suzuki H. Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy. N Engl J Med 2009, 360:1792-1794. 10.1056/NEJMc0809100, 19387023.
13. Gudbjartsson DF, Jonasson K, Frigge ML, Kong A. Allegro, a new computer program for multipoint linkage analysis. Nat Genet 2000, 25:12-13. 10.1038/75514, 10802644.
14. Yamada Y, Goto H, Suzumori K, Adachi R, Ogasawara N. Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency. Hum Genet 1992, 90:379-384. 10.1007/BF00220463, 1483694.
15. Ashokkumar B, Vaziri ND, Said HM. Thiamin uptake by the human-derived renal epithelial (HEK-293) cells: cellular and molecular mechanisms. Am J Physiol Renal Physiol 2006, 291(4):F796-F805. 10.1152/ajprenal.00078.2006, 16705148.
16. Debs R, Depienne C, Rastetter A, Bellanger A, Degos B, Galanaud D, Keren B, Lyon-Caen O, Brice A, Sedel F. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Arch Neurol 2010, 67:126-30. 10.1001/archneurol.2009.293, 20065143.