Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

Neurogenetics

Volumn 9, Issue 3, 2008, Pages 183-190

  Betsalel, Ofir T ^a   Van De Kamp, Jiddeke M ^a   Martínez Muñoz, Cristina ^a   Rosenberg, Efraim H ^a   De Brouwer, Arjan P M ^b,c   Pouwels, Petra J W ^a   Van Der Knaap, Marjo S ^a   Mancini, Grazia M S ^d   Jakobs, Cornelis ^a   Hamel, Ben C J ^b,c   Salomons, Gajja S ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c EURO MRX Consortium   (Netherlands)

^d SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

Creatine transporter deficiency; DHPLC; Germline mosaicism; Low level somatic mosaicism; SLC6A8; X linked mental retardation

Indexed keywords

ADULT; ARTICLE; CONTROLLED STUDY; CREATINE TRANSPORTER DEFICIENCY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; FAMILY STUDY; FEMALE; GENE; GENE DELETION; GENE MUTATION; GERM LINE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOSAICISM; PRIORITY JOURNAL; SLC6A8 GENE; SOMATIC CELL; X LINKED MENTAL RETARDATION;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CELLS, CULTURED; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, X-LINKED; GERM-LINE MUTATION; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MOLECULAR SEQUENCE DATA; MOSAICISM; NERVE TISSUE PROTEINS; NUCLEIC ACID DENATURATION; PEDIGREE; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; TRANSFECTION;

EID: 46149112586     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-008-0125-5     Document Type: Article

References (18)

1. Almeida LS, Verhoeven NM, Roos B, Valongo C, Cardoso ML, Vilarinho L, Salomons GS, Jakobs C (2004) Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Mol Genet Metab 82:214-219
2. 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
3. Gleeson JG, Minnerath S, Kuzniecky RI, Dobyns WB, Young ID, Ross ME, Walsh CA (2000) Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am J Hum Genet 67:574-581
4. Kleefstra T, Rosenberg EH, Salomons GS, Stroink H, van BH, Hamel BC, de Vries BB (2005) Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation. Clin Genet 68:379-381
5. Lion-Francois L, Cheillan D, Pitelet G, cquaviva-Bourdain C, Bussy G, Cotton F, Guibaud L, Gerard D, Rivier C, Vianey-Saban C, Jakobs C, Salomons GS, des Portes V (2006) High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. Neurology 67:1713-1714
6. Meierhofer D, Mayr JA, Ebner S, Sperl W, Kofler B (2005) Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations. Mitochondrion 5:282-296
7. Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, Smith JC, Markham AF (1989) Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 17:2503-2516
8. Poirier K, Abriol J, Souville I, Laroche-Raynaud C, Beldjord C, Gilbert B, Chelly J, Bienvenu T (2005) Maternal mosaicism for mutations in the ARX gene in a family with X-linked mental retardation. Hum Genet 118:45-48
9. Pouwels PJ, Brockmann K, Kruse B, Wilken B, Wick M, Hanefeld F, Frahm J (1999) Regional age dependence of human brain metabolites from infancy to adulthood as detected by quantitative localized proton MRS. Pediatr Res 46:474-485
10. Provencher SW (1993) Estimation of metabolite concentrations from localized in vivo proton NMR spectra. Magn Reson Med 30:672-679
11. Rosenberg EH, Almeida LS, Kleefstra T, deGrauw RS, Yntema HG, Bahi N, Moraine C, Ropers HH, Fryns JP, Degrauw TJ, Jakobs C, Salomons GS (2004) High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet 75:97-105
12. Rosenberg EH, Martinez MC, Betsalel OT, van Dooren SJ, Fernandez M, Jakobs C, Degrauw TJ, Kleefstra T, Schwartz CE, Salomons GS (2007) Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. Hum Mutat 28:890-896
13. 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
14. Struys EA, Jansen EE, Ten Brink HJ, Verhoeven NM, van der Knaap MS, Jakobs C (1998) An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency. J Pharm Biomed Anal 18:659-665
15. van der Knaap MS, Wevers RA, Struys EA, Verhoeven NM, Pouwels PJ, Engelke UF, Feikema W, Valk J, Jakobs C (1999) Leukoencephalopathy associated with a disturbance in the metabolism of polyols. Ann Neurol 46:925-928
16. Vulliamy TJ, Knight SW, Heiss NS, Smith OP, Poustka A, Dokal I, Mason PJ (1999) Dyskeratosis congenita caused by a 3′ deletion: germline and somatic mosaicism in a female carrier. Blood 94:1254-1260
17. West M, Park D, Dodd JR, Kistler J, Christie DL (2005) Purification and characterization of the creatine transporter expressed at high levels in HEK293 cells. Protein Expr Purif 41:393-401
18. Wolford JK, Blunt D, Ballecer C, Prochazka M (2000) High-throughput SNP detection by using DNA pooling and denaturing high performance liquid chromatography (DHPLC). Hum Genet 107:483-487