Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism

Molecular Genetics and Metabolism

Volumn 117, Issue 3, 2016, Pages 363-368

  Pupavac, Mihaela ^a   Tian, Xia ^b   Chu, Jordan ^a   Wang, Guoli ^b   Feng, Yanming ^b   Chen, Stella ^b   Fenter, Remington ^b   Zhang, Victor W ^b,c   Wang, Jing ^b,c   Watkins, David ^a   Wong, Lee Jun ^b,c   Rosenblatt, David S ^a  

^a MCGILL UNIVERSITY   (Canada)

^b BAYLOR GENETICS   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Cobalamin metabolism; Diagnostic test; Functional studies; Methylmalonic acid; Next generation sequencing gene panel; Vitamin B12

Indexed keywords

CYANOCOBALAMIN; METHYLMALONIC ACID; ACSF3 PROTEIN, HUMAN; COENZYME A LIGASE; SUCCINATE COENZYME A LIGASE; SUCLG1 PROTEIN, HUMAN; VITAMIN B COMPLEX;

AGED; ARTICLE; CHILD; CHROMOSOME DELETION; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; FIBROBLAST; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MALE; NEWBORN; NEXT GENERATION SEQUENCING; PRESCHOOL CHILD; PRIORITY JOURNAL; VITAMIN METABOLISM; CASE REPORT; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; GENETIC SCREENING; GENETIC VARIATION; GENETICS; GENOTYPE; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; INFANT; METABOLISM; METABOLISM, INBORN ERRORS; MOLECULAR DIAGNOSIS; MUTATION; PHENOTYPE; PROCEDURES; VITAMIN B 12 DEFICIENCY;

AMINO ACID METABOLISM, INBORN ERRORS; CHILD, PRESCHOOL; COENZYME A LIGASES; FEMALE; GENETIC TESTING; GENETIC VARIATION; GENOTYPE; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; PHENOTYPE; SUCCINATE-COA LIGASES; VITAMIN B 12; VITAMIN B 12 DEFICIENCY; VITAMIN B COMPLEX;

EID: 84959485236     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2016.01.008     Document Type: Article

References (12)

1. Manoli I., Venditti C.P. Methylmalonic acidemia. GeneReviews 2010.
2. Dobson C.M., Gradinger A., Longo N., Wu X., Leclerc D., Lerner-Ellis J., Lemieux M., Belair C., Watkins D., Rosenblatt D.S., Gravel R.A. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. Mol. Genet. Metab. 2006, 88:327-333.
3. Gradinger A.B., Belair C., Worgan L.C., Li C.D., Lavallee J., Roquis D., Watkins D., Rosenblatt D.S. Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE). Hum. Mutat. 2007, 28:1045.
4. Sloan J.L., Johnston J.J., Manoli I., Chandler R.J., Krause C., Carrillo-Carrasco N., Chandrasekaran S.D., Sysol J.R., O'Brien K., Hauser N..S., Sapp J.C., Dorward H.M., Huizing M., Barshop B.A., Berry S.A., James P.M., Champaigne N.L., de Lonlay P., Valayannopoulos V., Geschwind M.D., Gavrilov D.K., Nyhan W.L., Biesecker L.G., Venditti C..P. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat. Genet. 2011, 43:883-886.
5. Alfares A., Nunez L.D., Al-Thihli K., Mitchell J., Melancon S., Anastasio N., Ha K..C., Majewski J., Rosenblatt D.S., Braverman N. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. J. Med. Genet. 2011, 48:602-605.
6. Watkins D., Rosenblatt D.S. Lessons in biology from patients with inborn errors of vitamin B12 metabolism. Biochimie 2013, 95:1019-1022.
7. Watkins D., Matiaszuk N., Rosenblatt D.S. 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. 2000, 37:510-513.
8. Feng Y., Chen D., Wang G.L., Zhang V..W., Wong L.J. Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing. Genet. Med. 2015, 17:99-107.
9. Chery C., Hehn A., Mrabet N., Oussalah A., Besseau E.C., Alberto J.-M.B., Gross I., Josse T., Josse P., Gérard P., Guéant-Rodriguez R.M., Freund J.-N., Devignes J., Bourgaud F., Peyrin-Biroulet L., Feillet F., Guéant J.-L. Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant. Biochimie 2013, 95:995-1001.
10. Vockley J., Rinaldo P., Bennett M.J., Matern D., Vladutiu G.D. Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol. Genet. Metab. 2000, 71:10-18.
11. Tanner S.M., Sturm A.C., Baack E.C., Liyanarachchi S., de la Chapelle A. Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. Orphanet. J. Rare Dis. 2012, 7:56.
12. Illson M.L., Dempsey-Nunez L., Kent J., Huang Q., Brebner A., Raff M.L., Watkins D., Gilfix B.M., Wittwer C.T., Rosenblatt D.S. High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria. Mol. Genet. Metab. 2013, 110:86-89.