A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma

Human Mutation

Volumn 8, Issue 4, 1996, Pages 373-374

  Ségues, Bertrand ^a   Veber, Pascale Saugier ^a   Rabier, Daniel ^a   Calvas, Patrick ^a   Saudubray, Jean Marie ^a   Gilbert Dussardier, Brigitte ^a   Bonnefont, Jean Paul ^a   Munnich, Arnold ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

ARTICLE; CASE REPORT; CHILD; COMA; DNA SEQUENCE; EXON; GENE DELETION; GENE MUTATION; HUMAN; HYPERAMMONEMIA; MALE; PRIORITY JOURNAL; UREA CYCLE;

EID: 0029803256     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1996)8:4<373::aid-humu13>3.0.co;2-%23     Document Type: Article

References (7)

1. Brusilow SW, Horwich AL (1989) Urea cycle enzymes. In CR Scriver, AL Beaudet, WS Sly, D Valle (eds): "The Metabolic Basis of Inherited Disease." New York: McGraw-Hill, pp 629-663.
2. Gilbert-Dussardier B, Rabier D, Strautnieks S, Segues B, Bonnefont JP, Munnich A (1994) A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern. Hum Mol Genet 3:931-932.
3. Gilbert-Dussardier B, Segues B, Rozet JM, Rabier D, Bonnefont JP, Munnich A (1996) Partial duplication and novel point mutations of the ornithine transcarbamylase (OTC) gene in congenital hyperammonemia. Hum Mutat 8:74-76.
4. Hata A, Tsuzuki T, Shimada K, Takigushi M, Mori M, Matsuda I (1988) Structure of the human ornithine transcarbamylase gene. J Biochem 103:302-308.
5. Oppliger-Leibundgut E, Liechti-Gallati S, Colombo JP, Wermuth B (1995) Ornithine transcarbamylase deficiency: New sites with increased probability of mutation. Hum Genet 95:191-196.
6. Tuchman M, Plante RJ (1995) Mutations and polymorphisms in the human ornithine transcarbamylase gene: Mutation update addendum. Hum Mutat 5:293-295.
7. Tuchman M, Tsai MY, Holzknecht RA, Brusilow S (1989) Carbamylphosphate synthetase and ornithine transcarbamylase activities in enzyme-deficient human liver measured by radiochromatography and correlated with outcome. Pediatr Res 26: 77-82.