High prevalence of SLC6A8 deficiency in X-linked mental retardation

American Journal of Human Genetics

Volumn 75, Issue 1, 2004, Pages 97-105

  Rosenberg, Efraim H ^a   Almeida, Ligia S ^a   Kleefstra, Tjitske ^b,h   DeGrauw, Rose S ^a   Yntema, Helger G ^b,h   Bahi, Nadia ^d,h   Moraine, Claude ^e,h   Ropers, Hans Hilger ^f,h   Fryns, Jean Pierre ^g,h   DeGrauw, Ton J ^c   Jakobs, Cornelis ^a   Salomons, Gajja S ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Cincinnati Children's Hosp Med C   (United States)

^d CHU Cochin ^*  (France)

^e CHU BRETONNEAU   (France)

^f MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^g Clinical Genetics Unit   (Belgium)

^h European XLMR Consortium ^*

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE; CREATININE;

ARTICLE; CLINICAL ARTICLE; CREATINE TRANSPORTER GENE; CREATININE URINE LEVEL; FEMALE; FMR1 GENE; FRAGILE X SYNDROME; GENE; GENE MUTATION; GENE SEGREGATION; GENETIC CONSERVATION; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PATHOGENESIS; PATHOGENICITY; PREVALENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SLC6A8 GENE; SYNDROME DELINEATION; TRANSLATION REGULATION; X CHROMOSOME LINKAGE; X LINKED MENTAL RETARDATION SYNDROME;

EID: 3042544793     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/422102     Document Type: Article

References (26)

1. Bauman PA, Blakely RD (2002) Determinants within the C-terminus of the human norepinephrine transporter dictate transporter trafficking, stability, and activity. Arch Biochem Biophys 404:80-91
2. Bianchi MC, Tosetti M, Fornai F, Alessandri' MG, Cipriani P, De Vito G, Canapicchi R (2000) Reversible brain creatine deficiency in two sisters with normal blood creatine level. Ann Neurol 47:511-513
3. Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M, Danesi U, Jakobs C, Uziel G (2002) X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann Neurol 52:227-231
4. Brown AN, Muth TR, Caplan MJ (2003) The C-terminal tail of the GAT-2 GABA transporter contains a novel motif that plays a role in basolateral targeting. Am J Physiol Cell Physiol 286:c1071-c1077
5. Cecil KM, Salomons GS, Ball WS Jr, Wong B, Chuck G, Verhoeven NM, Jakobs C, deGrauw TJ (2001) Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol 49:401-404
6. Chelly J, Mandel JL (2001) Monogenic causes of X-linked mental retardation. Nat Rev Genet 2:669-680
7. Collins JS, Schwartz CE (2002) Detecting polymorphisms and mutations in candidate genes. Am J Hum Genet 71:1251-1252
8. deGrauw TJ, Salomons GS, Cecil KM, Chuck G, Newmeyer A, Schapiro MB, Jakobs C (2002) Congenital creatine transporter deficiency. Neuropediatrics 33:232-238
9. den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
10. de Vries BB, van den Ouweland AM, Mohkamsing S, Duivenvoorden HJ, Mol E, Gelsema K, van Rijn M, Halley DJ, Sandkuijl LA, Oostra BA, Tibben A, Niermeijer MF, Collaborative Fragile X Study Group (1997) Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Am J Hum Genet 61:660-667
11. Eichler EE, Lu F, Shen Y, Antonacci R, Jurecic V, Doggett NA, Moyzis RK, Baldini A, Gibbs RA, Nelson DL (1996) Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution. Hum Mol Genet 5:899-912
12. Gregor P, Nash SR, Caron MG, Seldin MF, Warren ST (1995) Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD. Genomics 25:332-333
13. Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE, Schwartz CE (2002) 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 70:1349-1356
14. Herbst DS, Miller JR (1980) Nonspecific X-linked mental retardation II: the frequency in British Columbia. Am J Med Genet 7:461-469
15. Item CB, Stockler-Ipsiroglu S, Stromberger C, Muhl A, Alessandri MG, Bianchi MC, Tosetti M, Fornai F, Cioni G (2001) Arginine:glycine amidinotransferase deficiency: the third in-born error of creatine metabolism in humans. Am J Hum Genet 69:1127-1133
16. Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, deGrauw TJ, Jakobs C (2001) X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet 68:1497-1500
17. Salomons GS, van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, deGrauw TJ, Jakobs C (2003) X-linked creatine transporter defect: an overview. J Inherit Metab Dis 26:309-318
18. Sandoval N, Bauer D, Brenner V, Coy JF, Drescher B, Kioschis P, Korn B, Nyakatura G, Poustka A, Reichwald K, Rosenthal A, Platzer M (1996) The genomic organization of a human creatine transporter (CRTR) gene located in Xq28. Genomics 35:383-385.
19. Schulze A, Hess T, Wevers R, Mayatepek E, Bachert P, Marescau B, Knopp MV, De Deyn PP, Bremer HJ, Rating D (1997) Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new in-born error of metabolism. J Pediatr 131:626-631
20. Stockler S, Hanefeld F, Frahm J (1996a) Creatine replacement therapy in guanidinoacetate methyltransferase deficiency: a novel inborn error of metabolism. Lancet 348:789-790
21. Stockler S, Holzbach U, Hanefeld F, Marquardt I, Helms G, Requart M, Hanicke W, Frahm J (1994) Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res 36:409-413
22. Stockler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K (1996b) Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am J Hum Genet 58:914-922
23. Stromberger C, Bodamer OA, Stockler-Ipsiroglu S (2003) Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. J Inherit Metab Dis 26:299-308
24. van der Knaap MS, Verhoeven NM, Maaswinkel-Mooij P, Pouwels PJ, Onkenhout W, Peeters EA, Stockler-Ipsiroglu S, Jakobs C (2000) Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect. Ann Neurol 47:540-543
25. Walker JB (1979) Creatine: biosynthesis, regulation, and function. Adv Enzymol Relat Areas Mol Biol 50:177-242
26. Wyss M, Kaddurah-Daouk R (2000) Creatine and creatinine metabolism. Physiol Rev 80:1107-1213