A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia

Hong Kong Medical Journal

Volumn 16, Issue 3, 2010, Pages 219-222

  Lee, Hencher H C ^a   Lee, Robert S Y ^a   Lai, C K ^a   Yuen, Y P ^a   Siu, T S ^b   Chan, Albert Y W ^a   Lam, C W ^b  

^a PRINCESS MARGARET HOSPITAL   (Hong Kong)

^b QUEEN MARY HOSPITAL   (Hong Kong)

Author keywords

Founder effect; Gene duplication; Hong kong; Isovaleryl CoA dehydrogenase

Indexed keywords

ADENINE; ARGININE; BENZOIC ACID; BIOTIN; CARNITINE; CYSTEINE; CYTOSINE; DNA DIRECTED DNA POLYMERASE ALPHA; GLYCINE; GUANINE; ISOVALERYL COENZYME A DEHYDROGENASE; RIBOFLAVIN; THIAMINE; THYMINE; TYROSINE; DNA DIRECTED DNA POLYMERASE BETA; ISOVALERIC ACID; VALERIC ACID DERIVATIVE;

ACIDEMIA; ACUTE BRAIN DISEASE; ARTICLE; CASE REPORT; CHINESE; DEVELOPMENTAL DISORDER; DYSPNEA; EXCHANGE BLOOD TRANSFUSION; GENE DUPLICATION; HUMAN; HUMAN CELL; ISOVALERIC ACIDEMIA; LABORATORY TEST; MALE; MISSENSE MUTATION; MOTOR DEVELOPMENT; NEWBORN; PARENTERAL NUTRITION; RESPIRATORY DISTRESS; RESUSCITATION; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYMOLOGY; FOUNDER EFFECT; GENETICS; TANDEM MASS SPECTROMETRY;

AMINO ACID METABOLISM, INBORN ERRORS; DNA POLYMERASE I; FOUNDER EFFECT; HUMANS; INFANT, NEWBORN; ISOVALERYL-COA DEHYDROGENASE; MALE; MUTATION, MISSENSE; PENTANOIC ACIDS; TANDEM MASS SPECTROMETRY;

EID: 77955826136     PISSN: 10242708     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

1. Lin WD, Wang CH, Lee CC, Lai CC, Tsai Y, Tsai FJ. Genetic mutation profile of isovaleric acidemia patients in Taiwan. Mol Genet Metab 2007;90:134-9.
2. Chace DH, Kalas TA, Naylor EW. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem 2003;49:1797-817.
3. Ensenauer R, Vockley J, Willard JM, et al. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet 2004;75:1136-42.
4. Pang CP, Law LK, Mak YT, et al. Biochemical investigation of young hospitalized Chinese children: results over a 7-year period. Am J Med Genet 1997;72:417-21.
5. Vockley J, Ensenauer R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet C Semin Med Genet 2006;142C:95-103.
6. Lee YW, Lee DH, Vockley J, Kim ND, Lee YK, Ki CS. Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia. Mol Genet Metab 2007;92:71-7.
7. Berry GT, Yudkoff M, Segal S. Isovaleric acidemia: medical and neurodevelopmental effects of long-term therapy. J Pediatr 1988;113:58-64.
8. Huang HP, Chu KL, Chien YH, et al. Tandem mass neonatal screening in Taiwan-report from one center. J Formos Med Assoc 2006;105:882-6.
9. Tiffany KA, Roberts DL, Wang M, et al. Structure of human isovaleryl-CoA dehydrogenase at 2.6 A resolution: structural basis for substrate specificity. Biochemistry 1997;36:8455-64.
10. Cooper DN, Krawczak M. Mechanisms of insertional mutagenesis in human genes causing genetic disease. Hum Genet 1991;87:409-15.
11. Krawczak M, Cooper DN. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 1991;86:425-41.