Ornithine transcarbamylase deficiency: Ten new mutations and high proportion of de novo mutations in heterozygous females

Human Mutation

Volumn 9, Issue 5, 1997, Pages 409-411

  Leibundgut, Elisabeth Oppliger ^a   Liechti Gallati, Sabina ^a   Colombo, Jean Pierre ^a   Wermuth, Bendicht ^a,b  

^a UNIVERSITY OF BERN   (Switzerland)

^b UNIVERSITY OF BERN   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE; SINGLE STRANDED DNA;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DNA DETERMINATION; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; LABORATORY TEST; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

AGE OF ONSET; AMINO ACID METABOLISM, INBORN ERRORS; AMMONIA; CHILD; CHILD, PRESCHOOL; FEMALE; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE;

EID: 0031000968     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:5<409::AID-HUMU5>3.0.CO;2-Z     Document Type: Article

References (14)

1. Batshaw ML, Msall M, Beaudet AL, Trojak J (1986) Risk of serious illness in heterozygotes from ornithine transcarbamylase deficiency. J Pediatr 108:236-241.
2. Bonaïti-Pellié C, Pelet A, Ogier H, Nelson J-R, Largillière C, Berthelot J, Saudubray J-M, Munnich A (1990) A probable sex difference in mutation rates in ornithine transcarbamylase deficiency. Hum Genet 84:163-166.
3. Brusilow SW, Horwich AL (1995) Urea cycle enzymes. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease. 7th Ed. New York: McGraw-Hill, pp 1187-1232.
4. Grompe M, Muzny DM, Caskey CT (1989) Scanning detection of mutations in human ornithine transcarbamylase deficiency by chemical mismatch cleavage. Proc Natl Acad Sci USA 86:5888-5892.
5. Grompe M, Caskey CT, Fenwick RG (1991) Improved molecular diagnostics for ornithine transcarbamylase deficiency. Am J Hum Genet 48:212-222.
6. Haldane JBS (1935) The rate of spontaneous mutations of a human gene. J Genet 13:236-241.
7. Hermann G, Frischauf AM (1987) Isolation of genomic DNA. Methods Enzymol 152:180-199.
8. Matsuura T, Hoshida R, Setayama C, Shimada K, Hase Y, Yanagawa T, Kajita M, Matsuda I (1993) Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand polymorphism for all exons and adjacent introns. Hum Genet 92:49-56.
9. Oppliger Leibundgut E, Liechti-Gallati S, Colombo J-P, Wermuth B (1995) Ornithine transcarbamylase deficiency: new sites with increased probability of mutation. Hum Genet 95:191-196.
10. Reish O, Plante RJ, Tuchman M (1993) Four new mutations in the ornithine transcarbamylase gene. Biochem Med Metab Biol 50:169-175.
11. Satoh Y, Sannondya Y, Ohtake A, Takayanagi M, Niimi H (1992) Molecular characterization of four different mutant alleles of the OTC gene in four unrelated patients with ornithine transcarbamylase deficiency. J Jpn Pediatr Soc 96:1855-1862.
12. Tuchman M, Plante RJ, McCann MT, Qureshi AA (1994) Seven new mutations in the human ornithine transcarbamylase gene. Hum Mut 4:57-60.
13. Tuchman M, Plante RJ (1995) Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum. Hum Mut 5:293-295.
14. Tuchman M, Matsuda I, Munnich A, Malcolm S, Strautnicks S, Briede T (1995) Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency. Am J Med Genet 55:67-70.