Novel intragenic deletions and point mutations of the omithine transcarbamylase gene in congenital hyperammonemia

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Calvas, Patrick ^a,b   Ségues, Bertrand ^a   Rozet, Jean Michel ^a   Rabier, Daniel ^a   Bonnefond, Jean Paul ^a   Munnich, Arnold ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PAUL SABATIER   (France)

Author keywords

Congenital hyperammonemia; Intragenic deletions; OTC

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE; AMMONIA;

ARTICLE; CHILD; CLINICAL ARTICLE; DNA SEQUENCE; ENZYME DEFICIENCY; FEMALE; GENE DELETION; GENOTYPE; HUMAN; HYPERAMMONEMIA; INFANT; MALE; NEWBORN; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; POINT MUTATION; PRIORITY JOURNAL; AMINO ACID SUBSTITUTION; BLOOD; CASE REPORT; FAMILY HEALTH; FATALITY; GENETICS; INTRON; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD;

AGE OF ONSET; AMINO ACID SUBSTITUTION; AMMONIA; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FAMILY HEALTH; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; INTRONS; MALE; ORNITHINE CARBAMOYLTRANSFERASE; POINT MUTATION; SEQUENCE DELETION;

EID: 0031965026     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110128     Document Type: Article

References (25)

1. Briand P Francois B, Rabier D, Cathelineau L (1982) Ornithine transcarbamylase deficiencies in human males: Kinetic and im-munochemical classification. Biochim Biophys Acta 704:100-106.
2. Brusilow SW, Horwich AL (1995) Urea cycle enzymes. In: Scriver R, Beaudet AL, Sly WS, Valle D, eds. The molecular and metabolic bases of inherited disease. New York: McGraw-Hill, 1187-1232.
3. Chomczynski P, Sacchi N (1987) Single-step method of RNA isola-tion by acid guanidium thiocyanate-phenol-chloroform extrac-tion. Analy Biochem 162:156-159.
4. Chou PY, Fasman GD (1977) Beta-turns in proteins. J Biol Mol 115:135-175.
5. Dessen P, Fondrat TC, Valencien C, Mugnier C (1990) BISANCE: A French service for access to biomolecular sequence databases. CABIOS 6:355-356.
6. Feldmann D, Rozet JM, Pelet A, Hentzen D, Briand P, Hubert P, Largilliere C, Rabier D, Farriaux JP, Munnich A (1992) Site spe-cific screening for point mutations in ornithine transcarbamylase deficiency. J Med Genet 29:471-475.
7. Gamier J, Osguthorpe DJ, Robson B (1978) Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins. ] Biol Mol 120:97-120.
8. Gilbert-Dussardier B, Segues B, Rozet J-M, Rabier D, Calvas P de Lumley L, Bonnefond J-P Munnich A (1996) Partial duplication [dup TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia. Hum Mutat 8:74-76.
9. Hata A, Tsuzuki T, Shimada K, Takiguchi M, Mori M, Matsuda I (1988) Structure of the human ornithine transcarbamylase gene. ] Biochem 103:302-308.
10. Horwich AL, Fenton WA, Williams KR, Kalousek F, Kraus JP Doolitle RF, Konigsberg W, Rosenberg LE (1984) Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial transcarbamylase. Science 224:1068-1084.
11. Itoh Y, Soldati L, Stalon V, Falmagne P Terawaki Y, Leisinger T, Haas D (1988) Anabolic ornithine carbamoyltransferase of Pseudomo-nas aeruginosa: Nucleotide sequence and transcriptional control of the argF structural gene. J Bacteriol 170:2725-2734.
12. Lindgren V, Martinville B, Horwich AL, Rosenberg LE, Francke U (1984) Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. Science 226:698-700.
13. Matsuura T, Hoshide R, Komaki S, Kiwaki K, Endo F, Nakamura S, Jitosho X Matsuda I (1995) Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency. J Inher Metab Dis 18:273-282.
14. Ng WG, Oizumi J, Koch R, Shaw KNF, McLaren J, Donnel GN, Carter M (1981) Carrier detection of urea cycle disorders. Pediatrics 68:448-152.
15. Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapide and sensitive detection of point mutation and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-879.
16. Rabier D.Benoit A, Petit F, Chekoury A, Bonnefond JP Saudubray JM, Kamoun P (1989) Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity. J Inher Metab Dis 14:842-843.
17. Rabier D, Guillois B, Bardet J, Depron C, Parvy P, Kamoun P (1991) Ornithine carbamoyltransferase deficiency with subnormal en-zyme activity. Clin Chem Acta 186:25-30.
18. Rowe PC, Newman SL, Brusilow SW (1986) Natural history of symp-tomatic partial ornithine transcarbamylase deficiency. N Eng J Med 314:541-547.
19. Senapathy P Shapiro MB, Harris NL (1990) Splice junctions, branch point sites, and exons: sequence statistics, identification, and ap-plications to genome project. Methods Enzymol 183:252-278.
20. TuchmanM (1993) Mutations and polymorphisms in the human orni-thine transcarbamylase gene. Hum Mutat 2:174-178.
21. Tuchman M, Morizono H, Reish O, Yuan X, Allewell NM (1995) The molecular basis of ornithine tanscarbamylase deficiency: Modelling the human enzyme and the effects of mutations. J Med Genet 32:680-688.
22. Tuchman M, Plante RJ (1995) Mutations and polymorphisms in the human ornithine transcarbamylase gene: Mutation update ad-dendum. Hum Mutat 5:293-295.
23. Tuchman M, Plante R], Garcia-Perez MA, Rubio V (1996) Relative frequency of mutations causing ornithine transcarbamylase defi-ciency in 78 families. Hum Genet 97:274-276.
24. Van Huffel C, Dubois E, Messenguy F (1992) Cloning and sequenc-ing of arg3 and argl 1 genes of Schizosaccharomyces pombe on a 10-kb DNA fragment. Heterologous expression and mitochondrial targeting of their translation products. Eur J Biochem 205:33-43.
25. Yoo HW, Kim GH (1995) Identification of molecular lesions in the human ornithine transcarbamylase (OTC) gene in korean fami-lies with OTC deficiency. Am J Hum Genet 57:A233 (abst).