Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene

Molecular Genetics and Metabolism

Volumn 102, Issue 2, 2011, Pages 153-156

  Battini, R ^a   Chilosi, A M ^a   Casarano, M ^a   Moro, F ^a   Comparini, A ^a   Alessandri M G ^a   Leuzzi, V ^b   Tosetti, M ^a   Cioni, G ^a,c  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c UNIVERSITY OF PISA   (Italy)

Author keywords

Creatine metabolism and transport; CT1 deficiency; Language impairment; Mild phenotype; SLC6A8 gene mutation; XLMR

Indexed keywords

AMINO ACID TRANSPORTER; CREATINE TRANSPORTER; CREATININE; UNCLASSIFIED DRUG;

ARTICLE; BIOCHEMISTRY; CASE REPORT; CHILD; DISEASE ASSOCIATION; EXON; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HEMIZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; LANGUAGE DEVELOPMENT; LANGUAGE DISABILITY; MALE; MOTHER; NEUROCHEMISTRY; NUCLEAR MAGNETIC RESONANCE IMAGING; OMIM 300352; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SLC6A8 GENE MUTATION; SPEECH DISORDER;

ADULT; BASE SEQUENCE; CHILD; FEMALE; HUMANS; LANGUAGE DISORDERS; MALE; MEMBRANE TRANSPORT PROTEINS; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE ALIGNMENT;

EID: 78651437400     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.11.005     Document Type: Article

References (32)

1. Stöckler-Ipsiroglu S., Battini R., de Grauw T., et al. Disorders of creatine metabolism. Physician Guide to the Treatment and Follow-up of Metabolic Diseases 2005, 255-265. Springer-Verlag, NY. N. Blau, G.F. Hoffmann, J. Leonard, J.T.R. Clarke (Eds.).
2. Cecil K.M., Salomons G.S., Ball W.S., et al. Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?. Ann. Neurol. 2001, 49:401-404.
3. Bizzi A., Bugiani M., Salomons G.S., et al. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann. Neurol. 2002, 52:227-231.
4. Mancini G.M.S., Catsman-Berrevoets C.E., de Coo I.F.M., et al. Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. Am. J. Med. Genet. A 2005, 132:288-295.
5. Mancardi M.M., Caruso U., Schiaffino M.C., et al. Severe epilepsy in X-linked creatine transporter defect (CRTR-D). Epilepsia 2007, 48:1211-1213.
6. Battini R., Chilosi A., Mei D., et al. Mental retardation and verbal dyspraxia with de novo creatine transporter (SLC6A8) mutation. Am. J. Med. Genet. A 2007, 143:1771-1774.
7. Kleefstra T., Rosenberg E.H., Salomons G.S., et al. Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation. Clin. Genet. 2005, 68:379-381.
8. 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.
9. Stevenson R.E., Schwartz C.E., Schroer R.J. X-Linked Mental Retardation 2000, Oxford University Press, New York.
10. Rosemberg E.H., Almeida L.S., Kleefstra T., et al. High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am. J. Hum. Genet. 2004, 75:97-105.
11. Salomons G.S., van Dooren S.J., Verhoeven N.M., et al. X-linked creatine transporter defect: an overview. J. Inherit. Metab. Dis. 2003, 26:309-318.
12. Clark A.J., Rosenberg E.H., Almeida L.S., et al. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum. Genet. 2006, 119:604-610.
13. Provencher S.W. Estimation of metabolite concentrations from localized in vivo proton NMR spectra. Magn. Reson. Med. 1993, 30:672.
14. Salomons G.S., Van Dooren S., Verhoeven N., et al. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine deficiency syndrome. Am. J. Hum. Genet. A 2001, 68:1497-1500.
15. Alessandrì M.G., Celati R., Battini R., et al. Gas chromatography/mass spectrometry assay for arginine: glycine-amidinotransferase deficiency. Anal. Biochem. 2005, 343:356-358.
16. Chilosi A., Leuzzi V., Battini R., et al. Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect. Neurocase 2008, 14:151-161.
17. Wechsler D. Wechsler Preschool and Primary Scale of Intelligence-III 2002, The Psychological Corporation, TX.
18. Beery K.E. The Developmental Test of Visual-Motor Integration 1997, Modern Curriculum Press, Cleveland, OH.
19. Axia G. Test del Primo Linguaggio 1995, Giunti-OS, Firenze.
20. Chilosi A.M., Cipriani P., Villani S., et al. Capire giocando: uno strumento per la valutazione verbale precoce (TCVP). Technical Report, Italian National Research Council 2003, CNR002D39-004.
21. Cipriani P., Chilosi A.M., Bottari P., Pfanner L. L'acquisizione della morfosintassi in italiano 1993, Unipress, Padova.
22. De Vescovi A., Caselli M.C. Una prova di ripetizione di frasi per la valutazione del primo sviluppo grammaticale 2001, 341-364. Psicologia clinica dello sviluppo.
23. Battini R., Casarano M., Tosetti M., Chilosi A., Mancardi M.M., Leuzzi V., Cioni G. Clinical and MR spectroscopy follow up of CT1 deficient Italian patients treated by oral arginine. J Inherit Metab Dis 2010, 298-P:S1-S197. Cr GISMET, 33.
24. Ypsilanti A., Grouios G. Linguistic profile of individuals with Down syndrome: comparing the linguistic performance of three developmental disorders. Child Neuropsychol. 2008, 14:148-170.
25. Abbeduto L., Murphy M.M., Cawthon S.W., et al. Receptive language skills of adolescents and young adults with down or fragile X syndrome. Am. J. Ment. Retard. 2003, 108:149-160.
26. Alcaide P., Rodriguez-Pombo P., Ruiz-Sala P., et al. A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene. Dev. Med. Child Neurol. 2010, 52:215-217.
27. Rosemberg E.H., Munoz C.M., Betsalel O.T., et al. Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. Hum. Mutat. 2007, 28:890-906.
28. Mak C.S.W., Waldvogel H.J., Dodd J.R., et al. Immunohistochemical localisation of the creatine transporter in the rat brain. Neuroscience 2009, 163:571-585.
29. Van de Kamp J.M., Mancini G.M.S., Pouwels P.J.W., et al. Clinical features and X-inactivation in females heterozygous for creatine transporter defect. Clin. Genet. 2010, 1-8.
30. Mercimek-Mahmutoglu S., Connolly M.B., Poskitt K.J., et al. Treatment of intractable epilepsy in a female with SLC6A8 deficiency. Mol. Genet. Metab. 2010, 26. 10.1016/j.ymgme.2010.08.016.
31. Béard E., Braissant O. Synthesis and transport of creatine in the CNS: importance for cerebral function. J. Neurochem. 2010, 115:297-313.
32. Fons C., Sempere A., Arias A., et al. Arginine supplementation in four patients with X-linked creatine transporter defect. J. Inherit. Metab. Dis. 2008, 31:724-728.