Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations

Human Mutation

Volumn 30, Issue 7, 2009, Pages 1072-1081

  Lerner Ellis, Jordan P ^a,b,c,g   Anastasio, Natascia ^a,b   Liu, Junhui ^a,b   Coelho, David ^c   Suormala, Terttu ^c   Stucki, Martin ^d,e   Loewy, Amanda D ^a,b   Gurd, Scott ^b   Grundberg, Elin ^b   Morel, Chantal F ^f   Watkins, David ^a,b   Baumgartner, Matthias R ^a,b   Pastinen, Tomi ^a,b   Rosenblatt, David S ^a,b   Fowler, Brian ^c  

^a MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^e UNIVERSITY OF ZURICH   (Switzerland)

^f UNIVERSITY HEALTH NETWORK   (Canada)

^g MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Cobalamin; Homocystinuria; Hyperhomocysteinemia; Methylmalonic aciduria; MMACHC; Vitamin B12

Indexed keywords

CARRIER PROTEIN; MESSENGER RNA; PROTEIN MMACHC; UNCLASSIFIED DRUG;

ADOLESCENT; ALLELE; ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; FIBROBLAST; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HOMOCYSTINURIA; HUMAN; HUMAN CELL; INFANT; MAJOR CLINICAL STUDY; MALE; METHYLMALONIC ACIDURIA; MISSENSE MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD;

AGE OF ONSET; ALLELES; CANADA; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION REGULATION; GENOTYPE; HOMOCYSTINURIA; HUMANS; ITALY; MALE; MUTATION; PHENOTYPE; RNA, MESSENGER; VITAMIN B 12 DEFICIENCY;

EID: 67649662233     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21001     Document Type: Article

References (21)

1. Andersson HC, Shapira E. 1998. Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC). J Pediatr 132:121-124. (Pubitemid 28082543)
2. Bartholomew DW, Batshaw ML, Allen RH, Roe CR, Rosenblatt D, Valle DL, Francomano CA. 1988. Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. J Pediatr 112:32-39. (Pubitemid 18054264)
3. Ben-Omran TI, Wong H, Blaser S, Feigenbaum A. 2007. Late-onset cobalamin-C disorder: a challenging diagnosis. Am J Med Genet A 1;143:979-143:984. (Pubitemid 46700905)
4. Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B. 2008. Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med 358:1454-1464.
5. Fearing MK, Levy HL. 2003. Expanded newborn screening using tandem mass spectrometry. Adv Pediatr 50:81-111.
6. Ge B, Gurd S, Gaudin T, Doré C, Lepage P, Harmsen E, Hudson TJ, Pastinen TM. 2005. Survey of allelic expression using EST mining. Genome Res 15:1584-1591. (Pubitemid 41545012)
7. Heil SG, Hogeveen M, Kluijtmans LA, van Dijken PJ, van de Berg GB, Blom HJ, Morava E. 2007. Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). J Inherit Metab Dis 30:811.
8. Inoue K, Khajavi M, Ohyama T, Hirabayashi S, Wilson J, Reggin JD, Mancias P, Butler IJ, Wilkinson MF, Wegner M, Lupski JR. 2004. Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet 36:361-369. (Pubitemid 38437258)
9. Kim J, Gherasim C, Banerjee R. 2008. Decyanation of vitamin B12 by a trafficking chaperone. Proc Natl Acad Sci USA 105:14551-14554.
10. Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS. 2006. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet 38:93-100. (Pubitemid 43011888)
11. Mellman I, Willard HF, Youngdahl-Turner P, Rosenberg LE. 1979. Cobalamin coenzyme synthesis in normal and mutant fibroblasts: evidence for a processing enzyme activity deficient in cblC cells. J Biol Chem 254:11847-11853. (Pubitemid 10187004)
12. Morel CF, Lerner-Ellis JP, Rosenblatt DS. 2006. Combined methylmalonic aciduria and homocystinuria (cblC): Phenotype-genotype correlations and ethnic-specific observations. Mol Genet Metab 88:315-321. (Pubitemid 44107770)
13. Nogueira C, Aiello C, Cerone R, Martins E, Caruso U, Moroni I, Rizzo C, Diogo L, Leao E, Kok F, Deodato F, Schiaffino MC, Boenzi S, Danhaive O, Barbot C, Sequeira S, Locatelli M, Santorelli FM, Uziel G, Vilarinho L, Dionisi-Vici C. 2008. Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. Mol Genet Metab 93:475-480.
14. Oltean S, Banerjee R. 2003. Nutritional modulation of gene expression and homocysteine utilization by vitamin B12. J Biol Chem 278:20778-20784. (Pubitemid 36806382)
15. Pesacka EH, Rosenblatt DS. 1994. Intracellular metabolism of cobalamin. Altered activities of β-axial-ligand transferase and microsomal cob(III)alamin reductase in cblC and cblD fibroblasts. In: Bhatt HR, James VHT, Besser GM, Botazo GF, Keen H, editors. Advances in Thomas Addison's Disease, vol.1. Bristol, UK: Society of Endocrinology/Thomas Addison Society. p 315-323.
16. Rosenblatt DS, Aspler AL, Shevell MI, Pletcher BA, Fenton WA, Seashore MR. 1997. Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). J Inherit Metab Dis 20:528-538. (Pubitemid 27354848)
17. Roze E, Gervais D, Demeret S, Ogier de Baulny H, Zittoun J, Benoist JF, Said G, Pierrot-Deseilligny C, Bolgert F. 2003. Neuropsychiatric disturbances in presumed late-onset cobalamin C disease. Arch Neurol 60:1457-1462. (Pubitemid 37248810)
18. 12. Molec Genet Metab 88:138-145.
19. Thauvin-Robinet C, Roze E, Couvreur G, Horellou MH, Sedel F, Grabli D, Bruneteau G, Tonneti C, Masurel-Paulet A, Perennou D, Moreau T, Giroud M, de Baulny HO, Giraudier S, Faivre L. 2008. The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum. J Neurol Neurosurg Psychiatry 79:725-728. (Pubitemid 351829451)
20. Tsai AC, Morel CF, Scharer G, Yang M, Lerner-Ellis JP, Rosenblatt DS, Thomas JA. 2007. Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. Am J Med Genet A 143:2430-2434. (Pubitemid 47511935)
21. Yuen YP, Lai CK, Chan YW, Lam CW, Tong SF, Chan KY. 2007. DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay. Clin Chim Acta 375:171-172. (Pubitemid 44584243)