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Titolo:
Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations
Autore:
Cailloux, F; Gauthier-Barichard, F; Mimault, C; Isabelle, V; Courtois, V; Giraud, G; Dastugue, B; Boespflug-Tanguy, O;
Indirizzi:
Fac Med, INSERM, U384, F-63001 Clermont Ferrand, France Fac Med Clermont Ferrand France F-63001 F-63001 Clermont Ferrand, France
Titolo Testata:
EUROPEAN JOURNAL OF HUMAN GENETICS
fascicolo: 11, volume: 8, anno: 2000,
pagine: 837 - 845
SICI:
1018-4813(200011)8:11<837:GCIIBM>2.0.ZU;2-B
Fonte:
ISI
Lingua:
ENG
Soggetto:
PELIZAEUS-MERZBACHER-DISEASE; LINKED SPASTIC PARAPLEGIA; MAJOR CAUSE; CNS MYELIN; EXPRESSION; FAMILY; PLP; DUPLICATIONS; EVOLUTION; LOCUS;
Keywords:
proteolipid protein gene (PLP); Pelizaeus Merzbacher disease (PMD); spastic paraplegia (SPG); myelin disorder; X chromosome; molecular diagnosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
32
Recensione:
Indirizzi per estratti:
Indirizzo: Boespflug-Tanguy, O Fac Med, INSERM, U384, 28 Pl Henri Dunant,BP 38, F-63001 Clermont Ferrand,France Fac Med 28 Pl Henri Dunant,BP 38 Clermont Ferrand France F-63001
Citazione:
F. Cailloux et al., "Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations", EUR J HUM G, 8(11), 2000, pp. 837-845

Abstract

Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia type 2 (SPG2) are X-linked developmental defects of myelin formation affecting the central nervous system (CNS). They differ clinically in the onset and severity of the motor disability but both are allelic to the proteolipid protein gene (PLP), which encodes the principal protein components of CNS myelin, PLP and its spliced isoform, DM20. We investigated 52 PMD and 28 SPC families without large PLP duplications or deletions by genomic PCR amplification and sequencing of the PLP gene. We identified 29 and 4 abnormalities respectively. Patients with PLP mutations presented a large range of disease severity, with a continuum between severe forms of PMD, without motor development, to pure forms of SPC. Clinical severity was found to be correlated with the nature of the mutation, suggesting a distinct strategy for detection of PLP point mutations between severe PMD, mild PMD and SPC. Single amino-acid changes in highly conserved regions of the DM20 protein caused the most severe forms of PMD. Substitutions of less conserved amino acids, truncations, absence of the protein and PLP-specific mutations caused the milder forms of PMD and SPG. Therefore, the interactions and stability of the mutated proteins has a major effect on the severity of PLP-related diseases.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/10/20 alle ore 02:28:41