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A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.
J Invest Dermatol. 1995 Apr; 104(4):500-2.JI

Abstract

Hepatoerythropoietic porphyria is a severe cutaneous porphyria caused by deficiency of uroporphyrinogen decarboxylase and is considered to be the homozygous form of familial (type II) porphyria cutanea tarda. To elucidate further the relation between these conditions, we studied five Spanish families with hepatoerythropoietic porphyria and nine unrelated Spanish patients with familial porphyria cutanea tarda. Immunoreactive and catalytic uroporphyrinogen decarboxylase was decreased by greater than 95% in the five patients with hepatoerythropoietic porphyria. Hepatic uroporphyrinogen decarboxylase activity was decreased to 22% of normal. Four patients were homozygous for a mutation (G281E) originally identified in a Tunisian family; the fifth patient was a compound heterozygote for this mutation. The calculated carrier frequency for G281E in Spain is one in 1800. None of the nine familial porphyria cutanea tarda patients carried the G281E mutation. However, one G281E heterozygote in a family with hepatoerythropoietic porphyria had overt porphyria cutanea tarda. These findings suggest that the G281E mutation is functionally less severe than erythrocyte measurements indicate, that its clinical penetrance is very low in heterozygotes, and that, for this particular mutation, hepatoerythropoietic porphyria is the homozygous form of familial porphyria cutanea tarda.

Authors+Show Affiliations

Department of Medical Biochemistry, University of Wales College of Medicine, Cardiff, United Kingdom.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

7706766

Citation

Roberts, A G., et al. "A Mutation (G281E) of the Human Uroporphyrinogen Decarboxylase Gene Causes Both Hepatoerythropoietic Porphyria and Overt Familial Porphyria Cutanea Tarda: Biochemical and Genetic Studies On Spanish Patients." The Journal of Investigative Dermatology, vol. 104, no. 4, 1995, pp. 500-2.
Roberts AG, Elder GH, De Salamanca RE, et al. A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients. J Invest Dermatol. 1995;104(4):500-2.
Roberts, A. G., Elder, G. H., De Salamanca, R. E., Herrero, C., Lecha, M., & Mascaro, J. M. (1995). A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients. The Journal of Investigative Dermatology, 104(4), 500-2.
Roberts AG, et al. A Mutation (G281E) of the Human Uroporphyrinogen Decarboxylase Gene Causes Both Hepatoerythropoietic Porphyria and Overt Familial Porphyria Cutanea Tarda: Biochemical and Genetic Studies On Spanish Patients. J Invest Dermatol. 1995;104(4):500-2. PubMed PMID: 7706766.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients. AU - Roberts,A G, AU - Elder,G H, AU - De Salamanca,R E, AU - Herrero,C, AU - Lecha,M, AU - Mascaro,J M, PY - 1995/4/1/pubmed PY - 1995/4/1/medline PY - 1995/4/1/entrez SP - 500 EP - 2 JF - The Journal of investigative dermatology JO - J. Invest. Dermatol. VL - 104 IS - 4 N2 - Hepatoerythropoietic porphyria is a severe cutaneous porphyria caused by deficiency of uroporphyrinogen decarboxylase and is considered to be the homozygous form of familial (type II) porphyria cutanea tarda. To elucidate further the relation between these conditions, we studied five Spanish families with hepatoerythropoietic porphyria and nine unrelated Spanish patients with familial porphyria cutanea tarda. Immunoreactive and catalytic uroporphyrinogen decarboxylase was decreased by greater than 95% in the five patients with hepatoerythropoietic porphyria. Hepatic uroporphyrinogen decarboxylase activity was decreased to 22% of normal. Four patients were homozygous for a mutation (G281E) originally identified in a Tunisian family; the fifth patient was a compound heterozygote for this mutation. The calculated carrier frequency for G281E in Spain is one in 1800. None of the nine familial porphyria cutanea tarda patients carried the G281E mutation. However, one G281E heterozygote in a family with hepatoerythropoietic porphyria had overt porphyria cutanea tarda. These findings suggest that the G281E mutation is functionally less severe than erythrocyte measurements indicate, that its clinical penetrance is very low in heterozygotes, and that, for this particular mutation, hepatoerythropoietic porphyria is the homozygous form of familial porphyria cutanea tarda. SN - 0022-202X UR - https://www.unboundmedicine.com/medline/citation/7706766/A_mutation__G281E__of_the_human_uroporphyrinogen_decarboxylase_gene_causes_both_hepatoerythropoietic_porphyria_and_overt_familial_porphyria_cutanea_tarda:_biochemical_and_genetic_studies_on_Spanish_patients_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0022-202X(15)42099-8 DB - PRIME DP - Unbound Medicine ER -