Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness

Molecular Genetics and Metabolism

Volumn 106, Issue 1, 2012, Pages 43-47

  Osaka, Hitoshi ^a   Takagi, Atsushi ^a   Tsuyusaki, Yu ^a   Wada, Takahito ^a   Iai, Mizue ^a   Yamashita, Sumimasa ^a   Shimbo, Hiroko ^a   Saitsu, Hirotomo ^b   Salomons, Gajja S ^c   Jakobs, Cornelis ^c   Aida, Noriko ^a   Toshihiro, Shinka ^d   Kuhara, Tomiko ^d   Matsumoto, Naomichi ^b  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^b YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d KANAZAWA MEDICAL UNIVERSITY   (Japan)

Author keywords

ATP binding cassette, sub family D, member 1 (ABCD1); B cell receptor associated protein (BAP31); Solute carrier family 6, member 8 (SLC6A8); Xq28 deletion syndrome

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; B CELL RECEPTOR ASSOCIATED PROTEIN; CARRIER PROTEINS AND BINDING PROTEINS; CREATINE; PROTEIN; SOLUTE CARRIER FAMILY 6 MEMBER 8 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME DELETION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DNA SEQUENCE; DYSTONIA; EXON; FAILURE TO THRIVE; FIBROBLAST; GENE DELETION; GENE MUTATION; HUMAN; INTELLECTUAL IMPAIRMENT; LIVER DISEASE; LIVER DYSFUNCTION; MALE; MUSCLE HYPERTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WESTERN BLOTTING;

CHILD; CREATINE; CREATININE; DYSTONIA; GENE DELETION; HEARING LOSS, SENSORINEURAL; HUMANS; LIVER; MALE; MEMBRANE PROTEINS; NERVE TISSUE PROTEINS; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS;

EID: 84860182818     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.02.018     Document Type: Article

References (20)

1. Stockler S., Schutz P.W., Salomons G.S. Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. Subcell. Biochem. 2007, 46:149-166.
2. Longo N., Ardon O., Vanzo R., Schwartz E., Pasquali M. Disorders of creatine transport and metabolism. Am. J. Med. Genet. C Semin. Med. Genet. 2011, 157:72-78.
3. Gregor P., Nash S.R., Caron M.G., Seldin M.F., Warren S.T. Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD. Genomics 1995, 25:332-333.
4. Rosenberg E.H., Almeida L.S., Kleefstra T., deGrauw R.S., Yntema H.G., Bahi N., Moraine C., Ropers H.H., Fryns J.P., deGrauw T.J., Jakobs C., Salomons G.S. High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am. J. Hum. Genet. 2004, 75:97-105.
5. Newmeyer A., Cecil K.M., Schapiro M., Clark J.F., Degrauw T.J. Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging. J. Dev. Behav. Pediatr. 2005, 26:276-282.
6. Clark A.J., Rosenberg E.H., Almeida L.S., Wood T.C., Jakobs C., Stevenson R.E., Schwartz C.E., Salomons G.S. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum. Genet. 2006, 119:604-610.
7. Lion-Francois L., Cheillan D., Pitelet G., Acquaviva-Bourdain C., Bussy G., Cotton F., Guibaud L., Gerard D., Rivier C., Vianey-Saban C., Jakobs C., Salomons G.S., des Portes V. High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. Neurology 2006, 67:1713-1714.
8. Arias A., Corbella M., Fons C., Sempere A., Garcia-Villoria J., Ormazabal A., Poo P., Pineda M., Vilaseca M.A., Campistol J., Briones P., Pampols T., Salomons G.S., Ribes A., Artuch R. Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening. Clin. Biochem. 2007, 40:1328-1331.
9. Betsalel O.T., van de Kamp J.M., Martinez-Munoz C., Rosenberg E.H., de Brouwer A.P., Pouwels P.J., van der Knaap M.S., Mancini G.M., Jakobs C., Hamel B.C., Salomons G.S. Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency. Neurogenetics 2008, 9:183-190.
10. Puusepp H., Kall K., Salomons G.S., Talvik I., Mannamaa M., Rein R., Jakobs C., Ounap K. The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation. J. Inherit. Metab. Dis. 2009.
11. Ardon O., Amat di San Filippo C., Salomons G.S., Longo N. Creatine transporter deficiency in two half-brothers. Am. J. Med. Genet. A 2010, 152A:1979-1983.
12. Rosenberg E.H., Martinez Munoz 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.
13. Salomons G.S., van Dooren S.J., Verhoeven N.M., Marsden D., Schwartz C., Cecil K.M., DeGrauw T.J., Jakobs C. X-linked creatine transporter defect: an overview. J. Inherit. Metab. Dis. 2003, 26:309-318.
14. 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.
15. Anselm I.A., 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.
16. Corzo D., Gibson W., Johnson K., Mitchell G., LePage G., Cox G.F., Casey R., Zeiss C., Tyson H., Cutting G.R., Raymond G.V., Smith K.D., Watkins P.A., Moser A.B., Moser H.W., Steinberg S.J. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. Am. J. Hum. Genet. 2002, 70:1520-1531.
17. Valongo C., Cardoso M.L., Domingues P., Almeida L., Verhoeven N., Salomons G., Jakobs C., Vilarinho L. Age related reference values for urine creatine and guanidinoacetic acid concentration in children and adolescents by gas chromatography-mass spectrometry. Clin. Chim. Acta 2004, 348:155-161.
18. 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.
19. Iwasawa R., Mahul-Mellier A.L., Datler C., Pazarentzos E., Grimm S. Fis1 and Bap31 bridge the mitochondria-ER interface to establish a platform for apoptosis induction. EMBO J. 2011, 30:556-568.
20. Fonseca S.G., Ishigaki S., Oslowski C.M., Lu S., Lipson K.L., Ghosh R., Hayashi E., Ishihara H., Oka Y., Permutt M.A., Urano F. Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells. J. Clin. Invest. 2010, 120:744-755.