Mutations in familial porphyria cutanea tarda: Two novel and two previously described for hepatoerythropoietic porphyria

Uroporphyrinogen decarboxylase (URO-D) deficiency is responsible for two forms of genetic cutaneous porphyria: familial porphyria cutanea tarda (f-PCT) and hepatoerythropoietic porphyria (HEP). The f-PCT transmitted as an autosomal dominant trait, is characterized by photosensitive cutaneous lesions...

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Autores principales:	Mendez, Manuel, Rossetti, María Victoria, De Siervi, Adriana, Batlle, Alcira María del Carmen, Parera, Victoria Estela
Publicado:	2000
Materias:	uroporphyrinogen decarboxylase adult Argentina article child enzymology female genetic polymorphism genetics hepatoerythropoietic porphyria human middle aged mutation nucleotide sequence porphyria cutanea tarda Adult Child DNA Mutational Analysis Female Humans Middle Aged Mutation Polymorphism, Genetic Porphyria Cutanea Tarda Porphyria, Hepatoerythropoietic Uroporphyrinogen Decarboxylase
Acceso en línea:	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10981004_v16_n3_p269_Mendez http://hdl.handle.net/20.500.12110/paper_10981004_v16_n3_p269_Mendez
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

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spelling	paper:paper_10981004_v16_n3_p269_Mendez2023-06-08T16:07:59Z Mutations in familial porphyria cutanea tarda: Two novel and two previously described for hepatoerythropoietic porphyria Mendez, Manuel Rossetti, María Victoria De Siervi, Adriana Batlle, Alcira María del Carmen Parera, Victoria Estela uroporphyrinogen decarboxylase adult Argentina article child enzymology female genetic polymorphism genetics hepatoerythropoietic porphyria human middle aged mutation nucleotide sequence porphyria cutanea tarda Adult Argentina Child DNA Mutational Analysis Female Humans Middle Aged Mutation Polymorphism, Genetic Porphyria Cutanea Tarda Porphyria, Hepatoerythropoietic Uroporphyrinogen Decarboxylase Uroporphyrinogen decarboxylase (URO-D) deficiency is responsible for two forms of genetic cutaneous porphyria: familial porphyria cutanea tarda (f-PCT) and hepatoerythropoietic porphyria (HEP). The f-PCT transmitted as an autosomal dominant trait, is characterized by photosensitive cutaneous lesions frequently associated to hepatic dysfunction and is precipitated by various ecogenic factors. The HEP, transmitted as a recessive trait, is more severe than f-PCT and would be considered as the homozygous form of f-PCT. For the mutational analysis of f-PCT patients, the entire URO-D gene was amplified and each exon, intron-exon boundaries and the promoter region were cycle sequenced. Five mutations were found in 6 unrelated families studied, of these, two were new: a nonsense mutation in exon 6 (W159X) and a splice defect in intron 9 (IVS9(-1)G-->C). The other two missense mutations, P62L and A80G, had been previously reported in the homozygous state in HEP families. The g10insA, reported in our laboratory, was again identified in other two unrelated families. In addition 3 novel URO-D polymorphisms in non-coding regions were found. The reverse transcription-PCR and sequencing of the splice mutation carrier's RNA did not reveal the presence of an abnormal mRNA, suggesting that no stable transcript from the mutated allele is synthesized. These results increase to 39 the number of mutations identified in the URO-D gene; 4 of them causing both HEP and f-PCT. Copyright 2000 Wiley-Liss, Inc. Fil:Mendez, M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Rossetti, M.V. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:De Siervi, A. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:del Carmen Batlle, A.M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Parera, V. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. 2000 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10981004_v16_n3_p269_Mendez http://hdl.handle.net/20.500.12110/paper_10981004_v16_n3_p269_Mendez
institution	Universidad de Buenos Aires
institution_str	I-28
repository_str	R-134
collection	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic	uroporphyrinogen decarboxylase adult Argentina article child enzymology female genetic polymorphism genetics hepatoerythropoietic porphyria human middle aged mutation nucleotide sequence porphyria cutanea tarda Adult Argentina Child DNA Mutational Analysis Female Humans Middle Aged Mutation Polymorphism, Genetic Porphyria Cutanea Tarda Porphyria, Hepatoerythropoietic Uroporphyrinogen Decarboxylase
spellingShingle	uroporphyrinogen decarboxylase adult Argentina article child enzymology female genetic polymorphism genetics hepatoerythropoietic porphyria human middle aged mutation nucleotide sequence porphyria cutanea tarda Adult Argentina Child DNA Mutational Analysis Female Humans Middle Aged Mutation Polymorphism, Genetic Porphyria Cutanea Tarda Porphyria, Hepatoerythropoietic Uroporphyrinogen Decarboxylase Mendez, Manuel Rossetti, María Victoria De Siervi, Adriana Batlle, Alcira María del Carmen Parera, Victoria Estela Mutations in familial porphyria cutanea tarda: Two novel and two previously described for hepatoerythropoietic porphyria
topic_facet	uroporphyrinogen decarboxylase adult Argentina article child enzymology female genetic polymorphism genetics hepatoerythropoietic porphyria human middle aged mutation nucleotide sequence porphyria cutanea tarda Adult Argentina Child DNA Mutational Analysis Female Humans Middle Aged Mutation Polymorphism, Genetic Porphyria Cutanea Tarda Porphyria, Hepatoerythropoietic Uroporphyrinogen Decarboxylase
description	Uroporphyrinogen decarboxylase (URO-D) deficiency is responsible for two forms of genetic cutaneous porphyria: familial porphyria cutanea tarda (f-PCT) and hepatoerythropoietic porphyria (HEP). The f-PCT transmitted as an autosomal dominant trait, is characterized by photosensitive cutaneous lesions frequently associated to hepatic dysfunction and is precipitated by various ecogenic factors. The HEP, transmitted as a recessive trait, is more severe than f-PCT and would be considered as the homozygous form of f-PCT. For the mutational analysis of f-PCT patients, the entire URO-D gene was amplified and each exon, intron-exon boundaries and the promoter region were cycle sequenced. Five mutations were found in 6 unrelated families studied, of these, two were new: a nonsense mutation in exon 6 (W159X) and a splice defect in intron 9 (IVS9(-1)G-->C). The other two missense mutations, P62L and A80G, had been previously reported in the homozygous state in HEP families. The g10insA, reported in our laboratory, was again identified in other two unrelated families. In addition 3 novel URO-D polymorphisms in non-coding regions were found. The reverse transcription-PCR and sequencing of the splice mutation carrier's RNA did not reveal the presence of an abnormal mRNA, suggesting that no stable transcript from the mutated allele is synthesized. These results increase to 39 the number of mutations identified in the URO-D gene; 4 of them causing both HEP and f-PCT. Copyright 2000 Wiley-Liss, Inc.
author	Mendez, Manuel Rossetti, María Victoria De Siervi, Adriana Batlle, Alcira María del Carmen Parera, Victoria Estela
author_facet	Mendez, Manuel Rossetti, María Victoria De Siervi, Adriana Batlle, Alcira María del Carmen Parera, Victoria Estela
author_sort	Mendez, Manuel
title	Mutations in familial porphyria cutanea tarda: Two novel and two previously described for hepatoerythropoietic porphyria
title_short	Mutations in familial porphyria cutanea tarda: Two novel and two previously described for hepatoerythropoietic porphyria
title_full	Mutations in familial porphyria cutanea tarda: Two novel and two previously described for hepatoerythropoietic porphyria
title_fullStr	Mutations in familial porphyria cutanea tarda: Two novel and two previously described for hepatoerythropoietic porphyria
title_full_unstemmed	Mutations in familial porphyria cutanea tarda: Two novel and two previously described for hepatoerythropoietic porphyria
title_sort	mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria
publishDate	2000
url	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10981004_v16_n3_p269_Mendez http://hdl.handle.net/20.500.12110/paper_10981004_v16_n3_p269_Mendez
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_version_	1768543434355769344

Mutations in familial porphyria cutanea tarda: Two novel and two previously described for hepatoerythropoietic porphyria

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