Nine novel mutations in the hydroxymethylbilane synthase gene of Polish patients with acute intermittent porphyria [1]

Clinical Genetics

Volumn 69, Issue 3, 2006, Pages 284-286

  Schneider Yin, X ^b   Szlendak, U ^b   Lipniacka, A I ^b   Minder, E I ^b   Gregor, Anita ^a  

^a INSTITUTE OF HEMATOLOGY AND TRANSFUSION MEDICINE   (Poland)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE NUCLEOTIDE; AMINOLEVULINIC ACID; GUANINE NUCLEOTIDE; HEME; PORPHOBILINOGEN DEAMINASE; PYRIMIDINE NUCLEOTIDE;

ACUTE INTERMITTENT PORPHYRIA; DENATURING GRADIENT GEL ELECTROPHORESIS; FRAMESHIFT MUTATION; GENE LOCUS; GENE MUTATION; GENETIC CODE; GENETIC CONSERVATION; GENETIC STABILITY; HOUSEKEEPING GENE; HUMAN; LETTER; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; OPEN READING FRAME; POLAND; PRIORITY JOURNAL; PROTEIN SYNTHESIS; REGISTRATION;

ADULT; AGED; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MALE; MIDDLE AGED; MUTATION; POLAND; PORPHYRIA, ACUTE INTERMITTENT;

EID: 33644811277     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00575.x     Document Type: Letter

References (11)

1. Anderson K, Sassa S, Bishop D, Desnick R. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease, 8th edn. New York, NY: McGraw-Hill, 2001: 2991-3062.
2. Namba H, Narahara K, Tsuji K, Yokoyama Y, Seino Y. Assignment of human PBG deaminase to 11q24.1-q24.2 by in situ hybridization and gene dosage studies. Cytogenet Cell Genet 1991: 57: 105-108.
3. Grandchamp B, de Verneuil H, Beaumont C, Chretien S, Walter O, Nordmann Y. Tissue-specific expression of porphobilinogen deaminase. Two isozymes from a single gene. Eur J Biochem 1987: 162: 105-110.
4. Yoo H, Warner C, Chen C, Desnick R. Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene. Genomics 1993: 15: 21-29.
5. Puy H, Gross U, Deybach JC et al. Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria. Hum Genet 1998: 103: 570-575.
6. Gregor A, Schneider-Yin X, Szlendak U et al. Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria. Hum Mutat 2002: 19: 310.
7. Brownlie P, Lambert R, Louie G et al. The three-dimensional structures of mutants of porphobilinogen deaminase: Toward an understanding of the structural basis of acute intermittent porphyria. Protein Sci 1994: 3: 1644 -1650.
8. Puy H, Deybach JC, Lamoril J et al. Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. Am J Hum Genet 1997: 60: 1373-1383.
9. Schneider-Yin X, Bogard C, Rüfenacht U et al. Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria. Hum Hered 2000: 50: 247-250.
10. Martinez di Montemuros F, Di Pierro E, Biolcati G et al. Acute intermittent porphyria: Heterogeneity of mutations in the hydroxymethylbilane synthase gene in Italy. Blood Cells Mol Dis 2001: 27: 961-970.
11. Whatley SD, Woolf JR, Elder GH. Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: Identification of 25 novel mutations. Hum Genet 1999: 104: 505-510.