Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

Molecular Genetics and Metabolism

Volumn 105, Issue 4, 2012, Pages 596-601

  Betsalel, Ofir T ^a   Pop, Ana ^a   Rosenberg, Efraim H ^b   Fernandez Ojeda, Matilde ^a   Jakobs, Cornelis ^a   Salomons, Gajja S ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NETHERLANDS CANCER INSTITUTE   (Netherlands)

Author keywords

Creatine transporter; DHPLC; LOVD; Missense variants; SLC6A8

Indexed keywords

CREATINE; DNA; MEMBRANE PROTEIN; SODIUM AND CHLORIDE DEPENDENT CREATINE TRANSPORTER 1; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; FEMALE; FIBROBLAST; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOSAICISM; MOTHER; OPEN READING FRAME; PRIORITY JOURNAL;

BLOTTING, WESTERN; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; HETEROZYGOTE; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS; REAL-TIME POLYMERASE CHAIN REACTION;

EID: 84858701425     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.12.022     Document Type: Article

References (21)

1. Anselm I.A., Coulter D.L., Darras B.T. Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. Neurology 2008, 70:1642-1644.
2. Anselm I.M., Alkuraya F.S., Salomons G.S., Jakobs C., Fulton A.B., Mazumdar M., Rivkin M., Frye R., Poussaint T.Y., Marsden D. X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype. J. Inherit. Metab. Dis. 2006, 29:214-219.
3. Betsalel O.T., Rosenberg E.H., Almeida L.S., Kleefstra T., Schwartz C.E., Valayannopoulos V., Abdul-Rahman O., Poplawski N., Vilarinho L., Wolf P., den Dunnen J.T., Jakobs C., Salomons G.S. Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database. Eur. J. Hum. Genet. 2011, 19:56-63.
4. Bizzi A., Bugiani M., Salomons G.S., Hunneman D.H., Moroni I., Estienne M., Danesi U., Jakobs C., Uziel G. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann. Neurol. 2002, 52:227-231.
5. Christie D.L. Functional insights into the creatine transporter. Subcell. Biochem. 2007, 46:99-118.
6. deGrauw T.J., Salomons G.S., Cecil K.M., Chuck G., Newmeyer A., Schapiro M.B., Jakobs C. Congenital creatine transporter deficiency. Neuropediatrics 2002, 33:232-238.
7. Dezortova M., Jiru F., Petrasek J., Malinova V., Zeman J., Jirsa M., Hajek M. 1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency. MAGMA 2008, 21:327-332.
8. Fons C., Arias A., Sempere A., Poo P., Pineda M., Mas A., Lopez-Sala A., Garcia-Villoria J., Vilaseca M.A., Ozaez L., Lluch M., Artuch R., Campistol J., Ribes A. Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency. Mol. Genet. Metab. 2010, 99:296-299.
9. Hahn K.A., Salomons G.S., Tackels-Horne D., Wood T.C., Taylor H.A., Schroer R.J., Lubs H.A., Jakobs C., Olson R.L., Holden K.R., Stevenson R.E., Schwartz C.E. X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am. J. Hum. Genet. 2002, 70:1349-1356.
10. Hahn M.K., Robertson D., Blakely R.D. A mutation in the human norepinephrine transporter gene (SLC6A2) associated with orthostatic intolerance disrupts surface expression of mutant and wild-type transporters. J. Neurosci. 2003, 23:4470-4478.
11. Hastrup H., Karlin A., Javitch J.A. Symmetrical dimer of the human dopamine transporter revealed by cross-linking Cys-306 at the extracellular end of the sixth transmembrane segment. Proc. Natl. Acad. Sci. U. S. A. 2001, 98:10055-10060.
12. Item C.B., Stockler-Ipsiroglu S., Stromberger C., Muhl A., Alessandri M.G., Bianchi M.C., Tosetti M., Fornai F., Cioni G. Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am. J. Hum. Genet. 2001, 69:1127-1133.
13. Kilic F., Rudnick G. Oligomerization of serotonin transporter and its functional consequences. Proc. Natl. Acad. Sci. U. S. A. 2000, 97:3106-3111.
14. Poo-Arguelles P., Arias A., Vilaseca M.A., Ribes A., Artuch R., Sans-Fito A., Moreno A., Jakobs C., Salomons G. X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism. J. Inherit. Metab. Dis. 2006, 29:220-223.
15. Rosenberg E.H., Martinez M.C., Betsalel O.T., van Dooren S.J., Fernandez M., Jakobs C., deGrauw T.J., Kleefstra T., Schwartz C.E., Salomons G.S. Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. Hum. Mutat. 2007, 28:890-896.
16. Salomons G.S., van Dooren S.J., Verhoeven N.M., Cecil K.M., Ball W.S., deGrauw T.J., Jakobs C. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am. J. Hum. Genet. 2001, 68:1497-1500.
17. Singh S.K. LeuT: a prokaryotic stepping stone on the way to a eukaryotic neurotransmitter transporter structure. Channels (Austin) 2008, 2:380-389.
18. Stockler S., Holzbach U., Hanefeld F., Marquardt I., Helms G., Requart M., Hanicke W., Frahm J. Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr. Res. 1994, 36:409-413.
19. van de Kamp J.M., Mancini G.M., Pouwels P.J., Betsalel O.T., van Dooren S.J., de K I., Steenweg M.E., Jakobs C., van der Knaap M.S., Salomons G.S. Clinical features and X-inactivation in females heterozygous for creatine transporter defect. Clin. Genet. 2011, 79:264-272.
20. van de Kamp J.M., Pouwels P.J., Aarsen F.K., Ten Hoopen L.W., Knol D.L., de Klerk J.B., de Coo I.F., Huijmans J.G., Jakobs C., van der Knaap M.S., Salomons G.S., Mancini G.M. Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. J. Inherit. Metab. Dis. 2011.
21. Yamashita A., Singh S.K., Kawate T., Jin Y., Gouaux E. Crystal structure of a bacterial homologue of Na+/Cl-dependent neurotransmitter transporters. Nature 2005, 437:215-223.