Carbamoyl phosphate synthetase 1 deficiency in Italy: Clinical and genetic findings in a heterogeneous cohort

Gene

Volumn 493, Issue 2, 2012, Pages 228-234

  Funghini, S ^a   Thusberg, J ^b   Spada, M ^c   Gasperini, S ^a   Parini, R ^d   Ventura, L ^d   Meli, C ^e   De Cosmo, L ^f   Sibilio, M ^g   Mooney, S D ^b   Guerrini, R ^a   Donati, M A ^a   Morrone, A ^a,h  

^a UNIVERSITY OF FLORENCE   (Italy)

^b BUCK INSTITUTE FOR RESEARCH ON AGING   (United States)

^c UNIVERSITY OF TURIN   (Italy)

^d SAN GERARDO HOSPITAL   (Italy)

^e UNIVERSITY OF CATANIA   (Italy)

^f UNIVERSITY OF BARI   (Italy)

^g UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^h UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Carbamoyl Phosphate Synthetase 1; CPS1; Genetic lesion; Urea cycle disorders

Indexed keywords

CARBAMOYL PHOSPHATE SYNTHASE;

AMINO ACID SUBSTITUTION; ARTICLE; BIOCHEMISTRY; CADAVER; CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; ENZYME STABILITY; FEMALE; GENETIC HETEROGENEITY; GENETICS; HUMAN; ITALY; LIVER GRAFT; LIVER TRANSPLANTATION; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA); CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; ITALY; MALE; MUTATION;

EID: 84855858416     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2011.11.052     Document Type: Article

References (31)

1. Ahuja V., Powers-Lee S.G. Human carbamoyl-phosphate synthetase: insight into N-acetylglutamate interaction and the functional effects of a common single nucleotide polymorphism. J. Inherit. Metab. Dis. 2008, 31:481-491.
2. Altschul S.F., Gish W., Miller W., Myers E.W., Lipman D.J. Basic local alignment search tool. J. Mol. Biol. 1990, 215:403-410.
3. Barr F.E., Beverley H., Van Hook K., Cermak E., Christian K., Drinkwater D., Dyer K., Raggio N.T., Moore J.H., Christman B., Summar M. Effect of cardiopulmonary bypass on urea cycle intermediates and nitric oxide levels after congenital heart surgery. J. Pediatr. 2003, 142:26-30.
4. Brusilow S.W., Horwich A.L. Urea cycle enzymes. The Metabolic and Molecular Bases of Inherited Disease 2001, 1909-1963. McGraw-Hill, New York. 8th edition. C.R. Scriver, A.L. Beaudet, D. Sly, W.S. Valle (Eds.).
5. Canter J.A., Summar M.L., Smith H.B., Rice G.D., Hall L.D., Ritchie M.D., Motsinger A.A., Christian K.G., Drinkwater D.C., Scholl F.G., Dyer K.L., Kavanaugh-McHugh A.L., Barr F.E. Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study. Mitochondrion 2007, 7:204-210.
6. Capriotti E., Fariselli P., Casadio R. I-Mutant 2.0: predicting stability changes upon mutation from the protein sequence or structure. Nucleic Acids Res. 2005, 33:W306-W310.
7. Christoffels V.M., Habets P.E., Das A.T., Clout D.E., van Roon M.A., Moorman A.F., Lamers W.H. A single regulatory module of the carbamoylphosphate synthetase I gene executes its hepatic program of expression. J. Biol. Chem. 2000, 275:40020-40027.
8. den Dunnen J.T., Antonarakis S.E. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum. Mutat. 2000, 15:7-12.
9. den Dunnen J.T., Paalman M.H. Standardizing mutation nomenclature: why bother?. Hum. Mutat. 2003, 22:181-182.
10. Enns G.M. Neurologic damage and neurocognitive dysfunction in urea cycle disorders. Semin. Pediatr. Neurol. 2008, 15:132-139. (Review).
11. Frishman D., Argos P. Knowledge-based protein secondary structure assignment. Proteins 1995, 23:566-579.
12. Funghini S., Donati M.A., Pasquini E., Zammarchi E., Morrone A. Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. Hum. Mutat. 2003, 22:340-341.
13. Häberle J., Schmidt E., Pauli S., Rapp B., Christensen E., Wermuth B., Koch H.G. Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset. Hum. Mutat. 2003, 21:444.
14. Häberle J., Shchelochkov O.A., Wang J., Katsonis P., Hall L., Reiss S., Eeds A., Willis A., Yadav M., Summar S., Lichtarge O., Rubio V., Wong L.J., Summar M. Molecular defects in human carbamoyl phosphate synthetase i: mutational spectrum, diagnostic and protein structure considerations. Hum. Mutat. 2011, 32:579-589. the Urea Cycle Disorders Consortium.
15. Ishida T., Hiroma T., Hashikura Y., Horiuchi M., Kobayashi K., Nakamura T. Early neonatal onset carbamoyl-phosphate synthase 1 deficiency treated with continuous hemodiafiltration and early living-related liver transplantation. Pediatr. Int. 2009, 51:409-410.
16. Kasahara M., Sakamoto S., Shigeta T., Fukuda A., Kosaki R., Nakazawa A., Uemoto S., Noda M., Naiki Y., Horikawa R. Living-donor liver transplantation for carbamoyl phosphate synthetase 1 deficiency. Pediatr. Transplant. 2010, 14:1036-1040.
17. Katoh K., Kuma K., Toh H., Miyata T. MAFFT version 5: improvement in accuracy of multiple sequence alignment. Nucleic Acids Res. 2005, 33:511-518.
18. Li B., Krishnan V.G., Mort M.E., Xin F., Kamati K.K., Cooper D.N., Mooney S.D., Radivojac P. Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 2009, 25:2744-2750.
19. Martínez A.I., Pérez-Arellano I., Pekkala S., Barcelona B., Cervera J. Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency. Mol. Genet. Metab. 2010, 101:311-323.
20. McBride K.L., Miller G., Carter S., Karpen S., Goss J., Lee B. Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine transcarbamylase deficiency. Pediatrics 2004, 11:523-526.
21. Meyburg J., Hoffmann G.F. Liver, liver cell and stem cell transplantation for the treatment of urea cycle defects. Mol. Genet. Metab. 2010, 10:77-83.
22. Mitchell S., Ellingson C., Coyne T., Hall L., Neill M., Christian N., Higham C., Dobrowolski S.F., Tuchman M., Summar M. Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases. Hum. Mutat. 2009, 30:56-60. Urea Cycle Disorder Consortium.
23. Ng P.C., Henikoff S. Predicting the effects of amino acid substitutions on protein function. Annu. Rev. Genomics Hum. Genet. 2006, 7:61-80.
24. Ono H., Suto T., Kinoshita Y., Sakano T., Furue T., Ohta T. A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age. Brain Dev. 2009, 31:779-781.
25. Pearson D.L., Dawling S., Walsh W.F., Haines J.L., Christman B.W., Bazyk A., Scott N., Summar M.L. Neonatal pulmonary hypertension-urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function. N. Engl. J. Med. 2001, 344:1832-1838.
26. Pekkala S., Martinez A.I., Barcelona B., Gallego J., Bendala E., Yefimenko I., Rubio V., Cervera J. Structural insight on the control of urea synthesis: identification of the binding site for N-acetyl-L-glutamate, the essential allosteric activator of mitochondrial carbamoyl phosphate synthetase. Biochem. J. 2009, 424:211-220.
27. Pekkala S., Martinez A.I., Barcelona B., Yefimenko I., Finckh U., Rubio V., Cervera J. Understanding carbamoyl-phosphate I (CPS1) deficiency by using expression studies and structure based analysis. Hum. Mutat. 2010, 31:801-808.
28. Ryall J.C., Quantz M.A., Shore G.C. Rat liver and intestinal mucosa differ in the developmental pattern and hormonal regulation of carbamoyl-phosphate synthetase I and ornithine carbamoyl transferase gene expression. Eur. J. Biochem. 1986, 156:453-458.
29. Summar M.L., Dasouki M.J., Schofield P.J., Krishnamani M.R., Vnencak-Jones C., Tuchman M., Mao J., Phillips J.A. Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35. Cytogenet. Cell Genet. 1995, 71:266-267.
30. Van Beers E.H., Rings E.H., Posthuma G., Dingemanse M.A., Taminiau J.A., Heymans H.S., Einerhand A.W., Büller H.A., Dekker J. Intestinal carbamoyl phosphate synthase I in human and rat. Expression during development showsspecies differences and mosaic expression in duodenum of both species. J. Histochem. Cytochem. 1998, 46:231-240.
31. Wakutani Y., Nakayasu H., Takeshima T., Adachi M., Kawataki M., Kihira K., Sawada H., Bonno M., Yamamoto H., Nakashima K. Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients. J. Inherit. Metab. Dis. 2004, 27:787-788.