Clinical features and X-inactivation in females heterozygous for creatine transporter defect

Clinical Genetics

Volumn 79, Issue 3, 2011, Pages 264-272

  Van De Kamp, J M ^a   Mancini, G M S ^b   Pouwels, P J W ^a   Betsalel, O T ^a   Van Dooren, S J M ^a   De Koning, I ^b   Steenweg, M E ^a   Jakobs, C ^a   Van Der Knaap, M S ^a   Salomons, G S ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Cerebral creatine deficiency; Female carrier; SLC6A8; Spectroscopy; X linked mental retardation

Indexed keywords

CARRIER PROTEIN; CREATINE; CREATININE; PROTEIN SLC6A8; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; BRAIN CORTEX; BRAIN LEVEL; CEREBELLUM; CLINICAL ARTICLE; CLINICAL FEATURE; CONSTIPATION; CONTROLLED STUDY; CREATINE TRANSPORTER DEFECT; DNA DETERMINATION; FAMILY HISTORY; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; LEARNING DISORDER; MALE; MENTAL DEFICIENCY; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; WHITE MATTER; X CHROMOSOME INACTIVATION; X LINKED MENTAL RETARDATION;

ADULT; AGED; CELLS, CULTURED; CREATINE; FEMALE; HETEROZYGOTE; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; NETHERLANDS; NEUROPSYCHOLOGICAL TESTS; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS; X CHROMOSOME INACTIVATION;

EID: 79551651557     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01460.x     Document Type: Article

References (37)

1. Rosenberg EH, Almeida LS, Kleefstra T et al. High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet 2004: 75 (1): 97-105.
2. Newmeyer A, Cecil KM, Schapiro M et al. Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging. J Dev Behav Pediatr 2005: 26 (4): 276-282.
3. Arias A, Corbella M, Fons C et al. Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening. Clin Biochem 2007: 40 (16-17): 1328-1331.
4. Clark AJ, Rosenberg EH, Almeida LS et al. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum Genet 2006: 119 (6): 604-610.
5. Lion-Francois L, Cheillan D, Pitelet G et al. High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. Neurology 2006: 67 (9): 1713-1714.
6. Cecil KM, Salomons GS, Ball WSJ et al. Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol 2001: 49 (3): 401-404.
7. Salomons GS, van Dooren SJ, Verhoeven NM et al. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet 2001: 68 (6): 1497-1500.
8. Anselm IA, Alkuraya FS, Salomons GS et al. X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype. J Inherit Metab Dis 2006: 29 (1): 214-219.
9. Anselm IA, Coulter DL, Darras BT. Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. Neurology 2008: 70 (18): 1642-1644.
10. Battini R, Chilosi A, Mei D et al. Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation. Am J Med Genet A 2007: 143A (15): 1771-1774.
11. Bizzi A, Bugiani M, Salomons GS et al. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann Neurol 2002: 52 (2): 227-231.
12. DeGrauw TJ, Salomons GS, Cecil KM et al. Congenital creatine transporter deficiency. Neuropediatrics 2002: 33 (5): 232-238.
13. Degrauw TJ, Cecil KM, Byars AW et al. The clinical syndrome of creatine transporter deficiency. Mol Cell Biochem 2003: 244 (1-2): 45-48.
14. Dezortova M, Jiru F, Petrasek J et al. 1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency. MAGMA 2008: 21 (5): 327-332.
15. Hahn KA, Salomons GS, Tackels-Horne D et al. 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 (5): 1349-1356.
16. Kleefstra T, Rosenberg EH, Salomons GS 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 (4): 379-381.
17. Mancardi MM, Caruso U, Schiaffino MC et al. Severe epilepsy in X-linked creatine transporter defect (CRTR-D). Epilepsia 2007: 48 (6): 1211-1213.
18. Poo-Arguelles P, Arias A, Vilaseca MA et al. X-linked creatine transporter deficiency in two patients with severe mental retardation and autism. J Inherit Metab Dis 2006: 29 (1): 220-223.
19. Salomons GS, van Dooren SJM, Verhoeven NM et al. X-linked creatine transporter defect: an overview. J Inherit Metab Dis 2003: 26 (2-3): 309-318.
20. Schiaffino MC, Bellini C, Costabello L et al. clinical description of a patient with a novel SLC6A8 gene mutation. Neurogenetics 2005: 6 (3): 165-168.
21. Almeida LS, Verhoeven NM, Roos B et al. Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Mol Genet Metab 2004: 82 (3): 214-219.
22. Verhoeven NM, Salomons GS, Jakobs C. Laboratory diagnosis of defects of creatine biosynthesis and transport. Clin Chim Acta 2005: 361 (1-2): 1-9.
23. Stöckler-Ipsiroglu S, Salomons GS. Creatine deficiency syndromes. In: Fernandez J, Saudubray JM, van den Berghe G, Walter JH, eds. Inborn etabolic diseases, diagnosis and treatment, 4th revised edn. Heidelberg: Springer, 2006: 211-216.
24. Rosenberg EH, Martinez Munoz C, Betsalel OT et al. Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. Hum Mutat 2007: 28 (9): 890-896.
25. Cecil KM, Degrauw TJ, Salomons GS et al. Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency. J Comput Assist Tomogr 2003: 27 (1): 44-47.
26. Mancini GMS, Catsman-Berrevoets CE, de Coo IFM 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: 132A (3): 288-295.
27. Betsalel OT, van de Kamp JM, Martinez-Munoz C et al. Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency. Neurogenetics 2008: 9 (3): 183-190.
28. Luteijn F, Barelds D. Groningen intelligence test (in Dutch). Amsterdam: Harcourt Assessment BV, 2004.
29. Verhage F. Intelligence and age: research among the Dutch between 7 and 77 years of age (in Dutch). Assen: Van Gorcum; 1964.
30. Pouwels PJ, Brockmann K, Kruse B et al. Regional age dependence of human brain metabolites from infancy to adulthood as detected by quantitative localized proton MRS. Pediatr Res 1999: 46 (4): 474-485.
31. Allen RC, Zoghbi HY, Moseley AB et al. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992: 51 (6): 1229-1239.
32. Lau AW, Brown CJ, Penaherrera M et al. Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism. Am J Hum Genet 1997: 61 (6): 1353-1361.
33. Flynn JR. Massive IQ gains in 14 nations: what IQ tests really measure. Psychol Bull 1987: 101: 171-191.
34. Plenge RM, Stevenson RA, Lubs HA et al. Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. Am J Hum Genet 2002: 71 (1): 168-173.
35. Raynaud M, Moizard MP, Dessay B et al. Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families. Eur J Hum Genet 2000: 8 (4): 253-258.
36. Dobyns WB. The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked. Acta Paediatr Suppl 2006: 95 (451): 11-15.
37. Plagnol V, Uz E, Wallace C et al. Extreme clonality in lymphoblastoid cell lines with implications for allele specific expression analyses. PLoS ONE 2008: 3 (8): e2966.