A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome

Brain and Development

Volumn 28, Issue 5, 2006, Pages 332-335

  Torisu, Hiroyuki ^a   Kira, Ryutaro ^a   Kanazawa, Naomi ^b   Takemoto, Megumi ^a   Sanefuji, Masafumi ^a   Sakai, Yasunari ^a   Tsujino, Seiichi ^b   Hara, Toshiro ^a  

^a KYUSHU UNIVERSITY   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Hyperornithinemia hyperammonemia homocitrullinuria syndrome; Nonsense mutation; Phenotype genotype correlation; R275X mutation; SLC25A15

Indexed keywords

ANTICONVULSIVE AGENT; CARRIER PROTEIN; PROTEIN SLC25A15; UNCLASSIFIED DRUG; VALPROIC ACID;

ABDOMINAL RADIOGRAPHY; ACUTE BRAIN DISEASE; ADULT; AMINO ACID ANALYSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CAUSE OF DEATH; CITRULLINEMIA; COMPLEX PARTIAL SEIZURE; CONFUSION; DETERIORATION; DEVELOPMENTAL DISORDER; DISEASE DURATION; DRUG WITHDRAWAL; FATTY LIVER; FEMALE; GAIT DISORDER; GENE; GENE MUTATION; HEARING IMPAIRMENT; HOMOCITRULLINURIA; HOMOZYGOSITY; HUMAN; HYPERAMMONEMIA; HYPERORNITHINEMIA; HYPERORNITHINEMIA HYPERAMMONEMIA HOMOCITRULLINURIA SYNDROME; JAPAN; MENTAL DEFICIENCY; METABOLIC DISORDER; NONSENSE MUTATION; POLYNEUROPATHY; SIBLING; SLC25A15 GENE; SPASTIC PARAPLEGIA; TREATMENT OUTCOME;

ADULT; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID TRANSPORT SYSTEMS, BASIC; ARGININE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYPERAMMONEMIA; JAPAN; MALE; MITOCHONDRIAL DISEASES; MUTATION; PROTEINS;

EID: 33646103667     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2005.10.002     Document Type: Article

References (10)

1. Valle D., and Simell O. The hyperornithinemias. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic and molecular basis of inherited disease (2001), McGraw-Hill, New York 1909-1964
2. Camacho J.A., Obie C., Biery B., Goodman B.K., Hu C.A., Almashanu S., et al. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. Nat Genet 2 (1999) 151-158
3. Salvi S., Dionisi-Vici C., Bertini E., Verardo M., and Santorelli F.M. Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Hum Mutat 18 (2001) 460-464
4. Miyamoto T., Kanazawa N., Kato S., Kawakami M., Inoue Y., Kuhara T., et al. Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X. J Hum Genet 46 (2001) 260-262
5. Tsujino S., Kanazawa N., Ohashi T., Eto Y., Saito T., Kira J., et al. Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Ann Neurol 47 (2000) 625-631
6. Miyamoto T., Kanazawa N., Hayakawa C., and Tsujino S. A novel mutation, P126R, in a Japanese patient with HHH syndrome. Pediatr Neurol 26 (2002) 65-67
7. Tuchman M., Knopman D.S., and Shih V.E. Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Arch Neuro 147 (1990) 1134-1137
8. Camacho J.A., Rioseco-Camacho N., Andrade D., Porter J., and Kong J. Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder. Mol Genet Metab 79 (2003) 257-271
9. Nakajima M., Ishii S., Mito T., Takeshita K., Takashima S., Takakura H., et al. Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Brain Dev 10 (1988) 181-185
10. Tsujino S., Suzuki T., Azuma T., Higa S., Sakoda S., and Kishimoto S. Hyperornithinemia, hyperammonemia and homocitrullinuria-a case report and study of ornithine metabolism using in vivo deuterium labelling. Clin Chim Acta 201 (1991) 129-133