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Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).
Hum Mutat. 2001 Apr; 17(4):350.HM

Abstract

In this work, we describe seven novel molecular defects in the uroporphyrinogen decarboxylase gene responsible for familial porphyria cutanea tarda in Italian subjects with reduced erythrocyte URO-D activity. Four of these molecular abnormalities (R142Q, L161Q, S219F, P235S) are missense mutations, one (Q206X) is a nonsense mutation, one (IVS8-1 G>C) is a splicing defect causing the exon 9 deletion and one (1107 G>A) is located in the 3' untranslated region of UROD gene. All the amino acid substitutions fall in conserved regions in several organisms suggesting an important role in catalysis or in the protein structure stabilization. Three of these mutations have been detected in more than one subject. These results suggest a molecular heterogeneity at the UROD locus in Italian PCT patients although recurrent mutations have been identified.

Authors+Show Affiliations

Centro Anemie Congenite, Ospedale Maggiore Policlinico IRCCS, Dipartimento di Medicina Interna, University of Milan, Italy. maria.cappellini@unimi.itNo affiliation info availableNo affiliation info availableNo 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

11295834

Citation

Cappellini, M D., et al. "Seven Novel Point Mutations in the Uroporphyrinogen Decarboxylase (UROD) Gene in Patients With Familial Porphyria Cutanea Tarda (f-PCT)." Human Mutation, vol. 17, no. 4, 2001, p. 350.
Cappellini MD, Martinez di Montemuros F, Tavazzi D, et al. Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT). Hum Mutat. 2001;17(4):350.
Cappellini, M. D., Martinez di Montemuros, F., Tavazzi, D., Fargion, S., Pizzuti, A., Comino, A., Cainelli, T., & Fiorelli, G. (2001). Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT). Human Mutation, 17(4), 350.
Cappellini MD, et al. Seven Novel Point Mutations in the Uroporphyrinogen Decarboxylase (UROD) Gene in Patients With Familial Porphyria Cutanea Tarda (f-PCT). Hum Mutat. 2001;17(4):350. PubMed PMID: 11295834.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT). AU - Cappellini,M D, AU - Martinez di Montemuros,F, AU - Tavazzi,D, AU - Fargion,S, AU - Pizzuti,A, AU - Comino,A, AU - Cainelli,T, AU - Fiorelli,G, PY - 2001/4/11/pubmed PY - 2001/8/17/medline PY - 2001/4/11/entrez SP - 350 EP - 350 JF - Human mutation JO - Hum. Mutat. VL - 17 IS - 4 N2 - In this work, we describe seven novel molecular defects in the uroporphyrinogen decarboxylase gene responsible for familial porphyria cutanea tarda in Italian subjects with reduced erythrocyte URO-D activity. Four of these molecular abnormalities (R142Q, L161Q, S219F, P235S) are missense mutations, one (Q206X) is a nonsense mutation, one (IVS8-1 G>C) is a splicing defect causing the exon 9 deletion and one (1107 G>A) is located in the 3' untranslated region of UROD gene. All the amino acid substitutions fall in conserved regions in several organisms suggesting an important role in catalysis or in the protein structure stabilization. Three of these mutations have been detected in more than one subject. These results suggest a molecular heterogeneity at the UROD locus in Italian PCT patients although recurrent mutations have been identified. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/11295834/Seven_novel_point_mutations_in_the_uroporphyrinogen_decarboxylase__UROD__gene_in_patients_with_familial_porphyria_cutanea_tarda__f_PCT__ L2 - https://doi.org/10.1002/humu.35 DB - PRIME DP - Unbound Medicine ER -