DNA-based diagnosis of erythropoietic protoporphyria in two families and the frequency of a low-expression FECH allele in a Chinese population

Clinica Chimica Acta

Volumn 400, Issue 1-2, 2009, Pages 132-134

  Lau, Kin Chong ^a   Lam, Ching Wan ^a   Fong, Bonnie ^b   Siu, Tak Shing ^b   Tam, Sidney ^b  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b QUEEN MARY HOSPITAL   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROCYTE PROTOPORPHYRIN; FERROCHELATASE; GENOMIC DNA; HEMOGLOBIN; PROTOPORPHYRIN;

ABDOMINAL PAIN; AUTOSOMAL DOMINANT INHERITANCE; BEHAVIOR DISORDER; BLOOD SAMPLING; CASE REPORT; CHILD; CHINESE; CHROMOSOME 18Q; DNA EXTRACTION; DNA POLYMORPHISM; ELECTROLYTE DISTURBANCE; ERYTHROCYTE; ERYTHROPOIETIC PROTOPORPHYRIA; FECH ALLELE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; HEPATOMEGALY; HUMAN; IRRADIATION; LETTER; LIVER DYSFUNCTION; MALE; MULTIPHOTON MICROSCOPY; NONSENSE MUTATION; OPEN READING FRAME; PHOTOSENSITIVITY; PHOTOTOXICITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SPLENOMEGALY;

ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHINA; DNA; FAMILY; FEMALE; FERROCHELATASE; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENOTYPE; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; PROTOPORPHYRIA, ERYTHROPOIETIC; YOUNG ADULT;

EID: 57949106639     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2008.09.031     Document Type: Letter

References (16)

1. Nakahashi Y., Fujita H., Taketani S., Ishida N., Kappas A., and Sassa S. The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria. Proc Natl Acad Sci U S A 89 (1992) 281-285
2. Sandberg S., and Brun A. Light-induced protoporphyrin release from erythrocytes in erythropoietic protoporphyria. J Clin Invest 70 (1982) 693-698
3. Rimington C., and Cripps D.J. Biochemical and fluorescence-microscopy screening-tests for erythropoietic protoporphyria. Lancet 17 (1965) 624-626
4. Elder G.H., Smith S.G., and Jane Smyth S. Laboratory investigation of the porphyries. Ann Clin Biochem 27 (1990) 395-412
5. Taketani S., Inazawa J., Nakahashi Y., Abe T., and Tokunaga R. Structure of the human ferrochelatase gene. Exon/intron gene organization and location of the gene to chromosome 18. Eur J Biochem 205 (1992) 217-222
6. Gouya L., Puy H., Robreau A.M., et al. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet 30 (2002) 27-28
7. Badminton M.N., and Elder G.H. Molecular mechanisms of dominant expression in porphyria. J Inherit Metab Dis 28 (2005) 277-286
8. Gouya L., Martin-Schmitt C., Robreau A.M., et al. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet 78 (2006) 2-14
9. Zhou S.N., Xiao S.X., Peng Z.H., et al. A novel mutation of the FECH gene in a Chinese family with erythropoietic protoporphyria. J Dermatol Sci 48 (2007) 145-147
10. Kong X.F., Ye J., Gao D.Y., et al. Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria. J Hepatol 48 (2008) 375-379
11. Muley S.A., Midani H.A., Rank J.M., Carithers R., and Parry G.J. Neuropathy in erythropoietic protoporphyrias. Neurology 51 (1998) 262-265
12. NCBI Reference SNP (refSNP:rs2272783): http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?searchType=adhoc_search&type=rs&rs=rs2272783.
13. Whatley S.D., Mason N.G., Khan M., et al. Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease. J Med Genet 41 (2004) e105
14. Risheg H., Chen F.P., and Bloomer J.R. Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria. Mol Genet Metab 80 (2003) 196-206
15. Cordiali F.P., Macri A., Trento E., et al. Flow cytometric analysis of fluorocytes in patients with erythropoietic porphyria. Eur J Histochem 41 Suppl 2 (1997) 9-10
16. Nakano H., Nakano A., Toyomaki Y., et al. Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population. J Invest Dermatol 126 (2006) 2717-2719