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Titolo:
Variegate porphyria in western Europe: Identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation
Autore:
Whatley, SD; Puy, H; Morgan, RR; Robreau, AM; Roberts, AG; Nordmann, Y; Elder, GH; Deybach, JC;
Indirizzi:
Univ Wales Coll Med, Dept Med Biochem, Cardiff CF4 4XN, S Glam, Wales UnivWales Coll Med Cardiff S Glam Wales CF4 4XN f CF4 4XN, S Glam, Wales Univ Wales Hosp, NHS Healthcare Trust, Cardiff CF4 4XW, S Glam, Wales UnivWales Hosp Cardiff S Glam Wales CF4 4XW rdiff CF4 4XW, S Glam, Wales Univ Paris 07, Hop Louis Mourier, Ctr Francais Porphyries, Colombes, France Univ Paris 07 Colombes France Ctr Francais Porphyries, Colombes, France Univ Paris 07, Hop Louis Mourier, INSERM, U409, Colombes, France Univ Paris 07 Colombes France s Mourier, INSERM, U409, Colombes, France
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 4, volume: 65, anno: 1999,
pagine: 984 - 994
SICI:
0002-9297(199910)65:4<984:VPIWEI>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROTOPORPHYRINOGEN OXIDASE GENE; GRADIENT GEL-ELECTROPHORESIS; MISSENSE MUTATION; MOLECULAR-BASIS; PLASMA; EXPRESSION; LOCATION; ENZYME;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
48
Recensione:
Indirizzi per estratti:
Indirizzo: Elder, GH Univ Wales Coll Med, Dept Med Biochem, Heath Pk, Cardiff CF4 4XN, S Glam, Wales Univ Wales Coll Med Heath Pk Cardiff S Glam Wales CF4 4XN Wales
Citazione:
S.D. Whatley et al., "Variegate porphyria in western Europe: Identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation", AM J HU GEN, 65(4), 1999, pp. 984-994

Abstract

Variegate porphyria (VP) is a low-penetrance, autosomal dominant disorder characterized clinically by skin lesions and acute neurovisceral attacks that occur separately or together. It results from partial deficiency of protoporphyrinogen oxidase encoded by the PPOX gene. VP is relatively common inSouth Africa, where most patients have inherited the same mutation in the PPOX gene from a common ancestor, but few families from elsewhere have beenstudied. Here we describe the molecular basis and clinical features of 108unrelated patients from France and the United Kingdom. Mutations in the PPOX gene were identified by a combination of screening (denaturing gradient gel electrophoresis, heteroduplex analysis, or denaturing high-performance liquid chromatography) and direct automated sequencing of amplified genomicDNA. A total of GO novel and 6 previously reported mutations (25 missense,24 frameshift, 10 splice site, and 7 nonsense) were identified in 104 (96%) of these unrelated patients, together with 3 previously unrecognized single-nucleotide polymorphisms. VP is less heterogeneous than other acute porphyrias; 5 mutations were present in 28 (26%) of the families, whereas 47 mutations were restricted to 1 family; only 2 mutations were found in both countries. The pattern of clinical presentation was identical to that reported from South Africa and was not influenced by type of mutation. Our resultsdefine the molecular genetics of VP in western Europe, demonstrate its allelic heterogeneity outside South Africa, and show that genotype is not a significant determinant of mode of presentation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/07/20 alle ore 22:51:22