Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request

Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.

Item request has been placed! ×
Item request cannot be made. ×
loading   Processing Request
اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
  • معلومة اضافية
    • المصدر:
      Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print Cited Medium: Print ISSN: 1434-5161 (Print) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
    • بيانات النشر:
      Publication: 2009- : London : Nature Pub. Group
      Original Publication: Tokyo : Springer-Verlag, c1998-
    • الموضوع:
      Membrane Transport Proteins* ; Point Mutation*; Amino Acid Metabolism, Inborn Errors/*genetics ; Carrier Proteins/*genetics ; Mitochondria/*chemistry; Amino Acid Transport Systems, Basic ; Child ; Codon, Nonsense ; DNA Mutational Analysis ; Female ; Homozygote ; Humans ; Japan ; Male ; Middle Aged ; Ornithine/blood ; Syndrome
    • نبذة مختصرة :
      Patients with mitochondrial ornithine transporter deficiency (or HHH syndrome) present with various neurological symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma due to hyperammonemia. We previously described three novel mutations in the ORNT1 gene in Japanese patients with HHH syndrome. In this article, we report a new patient with HHH syndrome, a 52-year-old woman, who had the typical clinical features, except for an absence of mental retardation. When we screened this patient, as well as a previously described Japanese patient, for mutations in the ORNT1 gene, we found that both were homozygous for a nonsense mutation (R179X). Furthermore, reverse transcription (RT)-polymerase chain reaction (PCR) of fibroblast RNA from one patient showed exon 4 skipping, as had been observed in a previously reported patient with R179X. These results, together with the findings in our previous report, show that, in three of our five reported Japanese HHH patients (six of ten alleles), R179X is present, suggesting that this is a common mutation in Japanese patients with HHH syndrome.
    • الرقم المعرف:
      0 (Amino Acid Transport Systems, Basic)
      0 (Carrier Proteins)
      0 (Codon, Nonsense)
      0 (Membrane Transport Proteins)
      0 (SLC25A2 protein, human)
      0 (ornithine transporter)
      E524N2IXA3 (Ornithine)
    • الموضوع:
      Date Created: 20010517 Date Completed: 20010913 Latest Revision: 20131121
    • الموضوع:
      20240829
    • الرقم المعرف:
      10.1007/s100380170075
    • الرقم المعرف:
      11355015