Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism

Human Mutation

Volumn 24, Issue 6, 2004, Pages 509-516

  Lerner Ellis, Jordan P ^a   Dobson, C Melissa ^c   Wai, Timothy ^a   Watkins, David ^a   Tirone, Jamie C ^a   Leclerc, Daniel ^a   Doré, Carole ^a   Lepage, Pierre ^a   Gravel, Roy A ^c   Rosenblatt, David S ^a,b  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^c UNIVERSITY OF CALGARY   (Canada)

Author keywords

cblA; Cobalamin; Methylmalonic aciduria; MMAA; Vitamin B12

Indexed keywords

COBAMAMIDE; CYANOCOBALAMIN; DNA; GENE PRODUCT; METHYLMALONYL COENZYME A MUTASE; PROTEIN CBLA; RESTRICTION ENDONUCLEASE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CHROMOSOME 4Q; CLINICAL ARTICLE; CONTROLLED STUDY; DELETION MUTANT; DIAGNOSTIC TEST; DNA SPLICING; FEMALE; GENE; GENE MUTATION; GENETIC COMPLEMENTATION; GENETIC DISORDER; HAPLOTYPE; HUMAN; INFANT; MALE; METABOLIC DISORDER; METHYLMALONIC ACIDURIA; MISSENSE MUTATION; MMAA GENE; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; STOP CODON; SYNTHESIS; VITAMIN METABOLISM;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 4; COBAMIDES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC COMPLEMENTATION TEST; HAPLOTYPES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE TRANSPORT PROTEINS; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; MITOCHONDRIAL PROTEINS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; VITAMIN B 12;

EID: 10844247216     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20104     Document Type: Article

References (12)

1. den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
2. 12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Proc Natl Acad Sci USA 99:15554-15559.
3. Ewing B, Hillier L, Wendl M, Green P. 1998. Basecalling of automated sequencer traces using phred I. Accuracy assessment. Genome Res 8:175-185.
4. Fenton WA, Rosenberg LE. 1978. Genetic and biochemical analysis of human cobalamin mutants in cell culture. Annu Rev Genet 12:223-248.
5. Gordon D, Abajian C, Green P. 1998. Consed: a graphical tool for sequence finishing. Genome Res 8:175-185.
6. Gravel RA, Mahoney MJ, Ruddle FH, Rosenberg LE. 1975. Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism. Proc Natl Acad Sci USA 72:3181-3185.
7. Korotkova N, Lidstrom ME. 2004. MeaB is a component of the methylmalonyl-CoA mutase complex required for protection of the enzyme from inactivation. J Biol Chem 279:13652-13658.
8. Leipe DD, Wolf YI, Doonin EV, Aravind L. 2002. Classification and evolution of P-loop GTPases and related ATPases. J Mol Biol 317:41-72.
9. 12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis. J Clin Invest 74:2149-2156.
10. Rosenblatt D, Fenton WA. 2001. Inherited disorders of folate and cobalamin transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, editors. The metabolic and molecular bases of inherited disease, 8th edition. New York: McGraw-Hill. p 3897-3933.
11. Watkins D, Matiaszuk N, Rosenblatt DS. 2000. Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH). J Med Genet 37:510-513.
12. Willard HF, Mellman IS, Rosenberg LE. 1978. Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant. Am J Hum Genet 30:1-13.