Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Ornithine carbamoyltransferase

The OTC gene encodes a mitochondrial matrix enzyme. Loss-of-function mutations are responsible for ornithine transcarbamylase deficiency, an x-linked recessive disorder characterized by hyperammonemia.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Ornithine carbamoyltransferase deficiency
OTC

References:

1.

Bowling F et al. (1999) Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency.

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2.

Genet S et al. (2000) Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations.

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3.

Ploechl E et al. (2001) Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon.

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4.

Mavinakere M et al. (2001) The clinically variable R40H mutant ornithine carbamoyltransferase shows cytosolic degradation of the precursor protein in CHO cells.

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5.

Tuchman M et al. (2002) Mutations and polymorphisms in the human ornithine transcarbamylase gene.

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6.

Feldmann D et al. (1992) Site specific screening for point mutations in ornithine transcarbamylase deficiency.

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7.

Tuchman M et al. (1992) Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.

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8.

Suess PJ et al. (1992) Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency.

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9.

Grompe M et al. (1991) Improved molecular diagnostics for ornithine transcarbamylase deficiency.

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10.

Yamaguchi S et al. (2006) Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.

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11.

Hentzen D et al. (1991) Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.

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12.

Strautnieks S et al. (1991) Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.

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13.

Carstens RP et al. (1991) Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.

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14.

Hata A et al. (1991) A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.

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15.

Legius E et al. (1990) Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion.

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16.

Bonaïti-Pellié C et al. (1990) A probable sex difference in mutation rates in ornithine transcarbamylase deficiency.

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17.

Finkelstein JE et al. (1990) Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency.

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18.

Lee JT et al. (1989) An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells.

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19.

Hata A et al. (1989) Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.

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20.

Hata A et al. (1988) Structure of the human ornithine transcarbamylase gene.

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21.

Maddalena A et al. (1988) Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency.

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22.

Rozen R et al. () Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus.

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23.

Fox JE et al. (1986) Identification and application of additional restriction fragment length polymorphisms at the human ornithine transcarbamylase locus.

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24.

Ohtake A et al. (1986) Molecular basis of ornithine transcarbamylase deficiency in spf and spf-ash mutant mice.

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25.

Maddalena A et al. (1988) Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.

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26.

Cotton RG et al. (1988) Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

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27.

Wareham KA et al. () Age related reactivation of an X-linked gene.

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28.

Veres G et al. (1987) The molecular basis of the sparse fur mouse mutation.

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29.

Hata A et al. (1986) Isolation and characterization of the human ornithine transcarbamylase gene: structure of the 5'-end region.

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30.

Horwich AL et al. (1985) A leader peptide is sufficient to direct mitochondrial import of a chimeric protein.

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31.

Horwich AL et al. (1986) Targeting of pre-ornithine transcarbamylase to mitochondria: definition of critical regions and residues in the leader peptide.

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32.

DeMars R et al. (1976) Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation.

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33.

Horwich AL et al. (1984) Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase.

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34.

Hoogenraad N et al. (1983) Immunological evidence for an ornithine transcarbamylase lesion resulting in the formation of enzyme with smaller protein subunits.

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35.

Lindgren V et al. (1984) Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus.

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36.

Horwich AL et al. (1983) Molecular cloning of the cDNA coding for rat ornithine transcarbamoylase.

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37.

Tuchman M et al. (1995) Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency.

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38.

García-Pérez MA et al. (1995) Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity.

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39.

Oppliger Leibundgut EO et al. (1995) Ornithine transcarbamylase deficiency: new sites with increased probability of mutation.

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40.

Tuchman M et al. (1994) Seven new mutations in the human ornithine transcarbamylase gene.

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41.

Tuchman M et al. (1993) Mutations and polymorphisms in the human ornithine transcarbamylase gene.

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42.

Tuchman M et al. (1995) The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations.

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43.

Tuchman M et al. (1996) Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families.

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44.

Gilbert-Dussardier B et al. (1996) Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.

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45.

Matsuda I et al. (1996) Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.

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46.

Oppliger Leibundgut EO et al. (1996) Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms.

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47.

Komaki S et al. (1997) Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency.

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48.

Oppliger Leibundgut E et al. (1997) Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.

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49.

Yorifuji T et al. (1998) X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency.

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Update: Sept. 26, 2018