Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria

Physiological Research

Volumn 55, Issue SUPPL. 2, 2006, Pages

  Wiederholt, T ^a   Poblete Gutierrez P ^a   Gardlo, K ^b   Goerz, G ^b   Bolsen, K ^b   Merk, H F ^a   Frank, J ^a,c  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b HEINRICH HEINE UNIVERSITY   (Germany)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Congenital erythropoietic porphyria; Mutation; Porphyria; Uroporphyrinogen III cosynthase

Indexed keywords

UROPORPHYRINOGEN III SYNTHASE;

ARTICLE; CONGENITAL ERYTHROPOIETIC PORPHYRIA; GENETIC HETEROGENEITY; GENETICS; GERMANY; HUMAN; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; GENETIC HETEROGENEITY; GERMANY; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PORPHYRIA, ERYTHROPOIETIC; UROPORPHYRINOGEN III SYNTHETASE;

EID: 33847111677     PISSN: 08628408     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. AIZENCANG G, SOLIS C, BISHOP DF, WARNER C, DESNICK RJ: Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression. Genomics 70: 223-231, 2000.
2. ANDERSON KE, SASSA S, BISHOP DF, DESNICK RJ: Disorders of haem-biosynthesis: X-linked sideroblastic anemia an the porphyrias. In: The Molecular and Metabolic Bases of Inherited Disease. CS SCRIVER, AL BEAUDET, WS SLYAND, D VALLE (eds), McGraw-Hill, New York, pp 2961-3062.
3. ASTRIN KH, WARNER CA, YOO HW, GOODFELLOW PJ, TSAI SF, DESNICK RJ: Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2-q26.3. Hum Genet 87: 18-22, 1991.
4. BENSIDHOUM M, GED C, HOMBRADOS I, MOREAU-GAUDRY F, HIFT RS, MEISSNER P, STURROCK ED, DE VERNEUIL H: Identification of two new mutations in congenital erythropoietic porphyria. Eur J Hum Genet 3: 102-107, 1995.
5. BENSIDHOUM M, LAROU M, LEMEUR M, DIERICH A, COSTET P, RAYMOND S, DANIEL H, DE VERNEUIL H, GED C: The disruption of mouse uroporphyrinogen III synthase (uros) gene is fully lethal. Transgenics 2: 275-280, 1998.
6. th edition. TB FITZPATRICK, IM FREEDBERG, AZ EISEN, K WOLFF, KF AUSTEN, LA GOLDSMITH, SI KATZ (eds), McGraw Hill, 2003, pp 1435-1466.
7. BOULECHFAR S, DA SILVA V, DEYBACH JC, NORDMANN Y, GRANDCHAMP B, DE VERNEUIL H: Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Hum Genet 88: 320-324, 1992.
8. DESNICK RJ, ASTRIN KH: Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol 117: 779-795, 2002.
9. DEYBACH JC, DE VERNEUIL H, BOULECHFAR S, GRANDCHAMP B, NORDMANN Y: Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease). Blood 75: 1763-1765, 1990.
10. FONTANELLAS A, BENSIDHOUM M, ENRIQUEZ DE SALAMANCA R, MORUNO TIRADO A, DE VERNEUIL H, GED C: A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Eur J Hum Genet 4: 274-282, 1996.
11. FRANK J, WANG X, LAM HM, AITA VM, JUGERT FK, GOERZ G, MERK HF, POH-FITZPATRICK MB, CHRISTIANO AM: C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Ann Hum Genet 62: 225-230, 1998.
12. GANGULY A, ROCK MJ, PROCKOP DJ: Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 90: 10325-10329, 1993.
13. GED C, MEGARBANE H, CHOUERY E, LALANNE M, MEGARBANE A, DE VERNEUIL H: Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling. J Invest Dermatol 123: 589-591, 2004.
14. GROSS U, HOFFMANN GF, DOSS MO: Erythropoietic and hepatic porphyrias. J Inherit Metab Dis 23: 641-661, 2000.
15. HARADA FA, SHWAYDER TA, DESNICK RJ, LIM HW: Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation. J Am Acad Dermatol 45: 279-282, 2001.
16. MATHEWS MA, SCHUBERT HL, WHITBY FG, ALEXANDER KJ, SCHADICK K, BERGONIA HA, PHILLIPS JD, HILL CP: Crystal structure of human uroporphyrinogen III synthase. EMBO J 20: 5832-5839, 2001.
17. MAZURIER F, GERONIMI F, LAMRISSI-GARCIA I, MOREL C, RICHARD E, GED C, FONTANELLAS A, MOREAU-GAUDRY F, MOREY M, DE VERNEUIL H: Correction of deficient CD34+ cells from peripheral blood after mobilization in a patient with congenital erythropoietic porphyria. Mol Ther 3: 411-417, 2001.
18. PAIN RW, WELCH FW, WOODROFFE AJ, HANDLEY DA, LOCKWOOD WH: Erythropoietic uroporphyria of Gunther first presenting at 58 years with positive family studies. Br Med J 3: 621-623, 1975.
19. ROGOUNOVITCH T, TAKAMURA N, HOMBRADOS I, MOREL C, TANAKA T, KAMEYOSHI Y, SHIMIZU-YOSHIDA Y, DE VERNEUIL H, YAMASHITA S: Congenital erythropoietic porphyria: a novel homozygous mutation in a Japanese patient. J Invest Dermatol 115: 1156, 2000.
20. SAMBROOK J, FRITSCH EF, MANIATIS T (eds): Molecular cloning: A laboratory manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York, 2001.
21. SHADY AA, COLBY BR, CUNHA LF, ASTRIN KH, BISHOP DF, DESNICK RJ: Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene. Br J Haematol 117: 980-987, 2002.
22. SOLIS C, AIZENCANG GI, ASTRIN KH, BISHOP DF, DESNICK RJ: Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria. J Clin Invest 107: 753-762, 2001.
23. TAKAMURA N, HOMBRADOS I, TANIGAWA K, NAMBA H, NAGAYAMA Y, DE VERNEUIL H, YAMASHITA S. Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family. Am J Med Genet 70: 299-302, 1997.
24. TANIGAWA K, BENSIDHOUM M, TAKAMURA N, NAMBA H, YAMASHITA S, DE VERNEUIL H, GED C: A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family. Hum Genet 97: 57-560, 1996.
25. TEZCAN I, XU W, GURGEY A, TUNCER M, CETIN M, ONER C, YETGIN S, ERSOY F, AIZENCANG G, ASTRIN KH, DESNICK RJ: Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. Blood 92: 4053-4058, 1998.
26. TSAI SF, BISHOP DF, DESNICK RJ: Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria. Anal Biochem 166: 120-133, 1987.
27. WARNER CA, YOO HW, ROBERTS AG, DESNICK RJ: Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene. J Clin Invest 89: 693-700, 1992.
28. XU W, WARNER CA, DESNICK RJ: Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene. J Clin Invest 95: 905-912, 1995.