Tags

Type your tag names separated by a space and hit enter

Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.
Mol Genet Metab. 2012 Apr; 105(4):629-33.MG

Abstract

Porphyria cutanea tarda (PCT) is caused by decreased activity of uroporphyrinogen decarboxylase (UROD) in the liver. The disease usually occurs in adulthood and is characterized by cutaneous photosensitivity, hyperpigmentation, skin fragility and hypertrichosis, due to the accumulation of porphyrins produced by oxidation of uroporphyrinogen and other highly carboxylated porphyrinogens overproduced as a result of the enzyme deficiency. PCT is generally sporadic, but about 20-30% of patients have familial-PCT (F-PCT) which is associated with heterozygosity of mutations in the UROD gene. In the present study we have found the molecular defect in seventeen unrelated Argentinean patients with F-PCT, identifying a total of eleven UROD gene mutations: four novel and seven previously described. The novel mutations were: a guanine insertion at the 5' splice junction of intron 2, a three nucleotide deletion causing the lost of valine 90, a deletion of 22 bp in exon 6 and a deletion of part of the polyadenylation signal. Prokaryotic expression studies showed that the novel amino acid deletion resulted in an inactive protein. Mutations c.10insA and p.M165R, previously found in Argentinean patients, were recurrent in this study; they are the most frequent in Argentina accounting for 40% of the mutant alleles characterized to date.

Authors+Show Affiliations

Centro de Investigación, Instituto de Investigación Hospital 12 de Octubre, Universidad Complutense de Madrid, Spain. mmendez@h12o.esNo 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

22382040

Citation

Méndez, Manuel, et al. "Molecular Analysis of the UROD Gene in 17 Argentinean Patients With Familial Porphyria Cutanea Tarda: Characterization of Four Novel Mutations." Molecular Genetics and Metabolism, vol. 105, no. 4, 2012, pp. 629-33.
Méndez M, Rossetti MV, Gómez-Abecia S, et al. Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations. Mol Genet Metab. 2012;105(4):629-33.
Méndez, M., Rossetti, M. V., Gómez-Abecia, S., Morán-Jiménez, M. J., Parera, V., Batlle, A., & Enríquez de Salamanca, R. (2012). Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations. Molecular Genetics and Metabolism, 105(4), 629-33. https://doi.org/10.1016/j.ymgme.2012.02.002
Méndez M, et al. Molecular Analysis of the UROD Gene in 17 Argentinean Patients With Familial Porphyria Cutanea Tarda: Characterization of Four Novel Mutations. Mol Genet Metab. 2012;105(4):629-33. PubMed PMID: 22382040.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations. AU - Méndez,Manuel, AU - Rossetti,María Victoria, AU - Gómez-Abecia,Sara, AU - Morán-Jiménez,María-Josefa, AU - Parera,Victoria, AU - Batlle,Alcira, AU - Enríquez de Salamanca,Rafael, Y1 - 2012/02/08/ PY - 2011/12/07/received PY - 2012/02/01/revised PY - 2012/02/01/accepted PY - 2012/3/3/entrez PY - 2012/3/3/pubmed PY - 2012/7/17/medline SP - 629 EP - 33 JF - Molecular genetics and metabolism JO - Mol Genet Metab VL - 105 IS - 4 N2 - Porphyria cutanea tarda (PCT) is caused by decreased activity of uroporphyrinogen decarboxylase (UROD) in the liver. The disease usually occurs in adulthood and is characterized by cutaneous photosensitivity, hyperpigmentation, skin fragility and hypertrichosis, due to the accumulation of porphyrins produced by oxidation of uroporphyrinogen and other highly carboxylated porphyrinogens overproduced as a result of the enzyme deficiency. PCT is generally sporadic, but about 20-30% of patients have familial-PCT (F-PCT) which is associated with heterozygosity of mutations in the UROD gene. In the present study we have found the molecular defect in seventeen unrelated Argentinean patients with F-PCT, identifying a total of eleven UROD gene mutations: four novel and seven previously described. The novel mutations were: a guanine insertion at the 5' splice junction of intron 2, a three nucleotide deletion causing the lost of valine 90, a deletion of 22 bp in exon 6 and a deletion of part of the polyadenylation signal. Prokaryotic expression studies showed that the novel amino acid deletion resulted in an inactive protein. Mutations c.10insA and p.M165R, previously found in Argentinean patients, were recurrent in this study; they are the most frequent in Argentina accounting for 40% of the mutant alleles characterized to date. SN - 1096-7206 UR - https://www.unboundmedicine.com/medline/citation/22382040/Molecular_analysis_of_the_UROD_gene_in_17_Argentinean_patients_with_familial_porphyria_cutanea_tarda:_characterization_of_four_novel_mutations_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1096-7192(12)00027-3 DB - PRIME DP - Unbound Medicine ER -