Abstract
Eight unrelated Italian patients with the hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome were analyzed for mutations in the ORNT1 gene. Seven novel mutations were identified (Q89X, G27R, G190D, R275Q, c.861insG, c.164insA, and IVS5+1G-->A). Other previously described variants were a heterozygous deletion of a phenylalanine residue (F188del) in one allele and the R179X in two. The G27R mutation was carried by two patients. Analyses of ORNT1 mRNA in four patients showed that mutant alleles were stable and of the predicted size. The current study expands the spectrum of mutations in ORNT1 gene.
Copyright Wiley-Liss, Inc.
MeSH terms
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Age of Onset
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Alleles
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Amino Acid Transport Systems, Basic
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Base Sequence
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Citrulline / analogs & derivatives*
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Citrulline / metabolism*
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DNA Mutational Analysis
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Exons / genetics
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Female
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Fibroblasts
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Humans
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Hyperammonemia / epidemiology
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Hyperammonemia / genetics*
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Hyperammonemia / pathology
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Hyperammonemia / physiopathology
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Infant, Newborn
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Italy
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Male
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Metabolism, Inborn Errors / epidemiology
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Metabolism, Inborn Errors / genetics*
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Metabolism, Inborn Errors / metabolism
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Metabolism, Inborn Errors / pathology
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Mitochondrial Membrane Transport Proteins
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Mutation / genetics*
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Ornithine / metabolism*
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Pedigree
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Polymorphism, Restriction Fragment Length
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Proteins / genetics*
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Reverse Transcriptase Polymerase Chain Reaction
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Syndrome
Substances
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Amino Acid Transport Systems, Basic
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Mitochondrial Membrane Transport Proteins
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Proteins
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SLC25A15 protein, human
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homocitrulline
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Citrulline
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Ornithine