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Titolo:
Parental origin of de novo MECP2 mutations in Rett syndrome
Autore:
Girard, M; Couvert, P; Carrie, A; Tardieu, M; Chelly, J; Beldjord, C; Bienvenu, T;
Indirizzi:
Fac Med Cochin, ICGM, U129, Lab Genet & Physiopathol Retards Mentaux, F-75014 Paris, France Fac Med Cochin Paris France F-75014 tards Mentaux, F-75014 Paris, France CHU Bicetre, Dept Pediat, Serv Neurol, F-94275 Le Kremlin Bicetre, France CHU Bicetre Le Kremlin Bicetre France F-94275 Le Kremlin Bicetre, France
Titolo Testata:
EUROPEAN JOURNAL OF HUMAN GENETICS
fascicolo: 3, volume: 9, anno: 2001,
pagine: 231 - 236
SICI:
1018-4813(200103)9:3<231:POODNM>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
PERFORMANCE LIQUID-CHROMATOGRAPHY; X-CHROMOSOME INACTIVATION; LINKED MENTAL-RETARDATION; CPG-BINDING PROTEIN-2; SEX-RATIO; FAMILIES; POLYMORPHISMS; GIRLS; MALES; GENE;
Keywords:
MECP2 gene; Rett syndrome; parental origin;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
23
Recensione:
Indirizzi per estratti:
Indirizzo: Chelly, J Fac Med Cochin, ICGM, U129, Lab Genet & Physiopathol Retards Mentaux, 24 Rue Faubourg St Jacques, F-75014 Paris, France Fac Med Cochin 24 Rue Faubourg St Jacques Paris France F-75014
Citazione:
M. Girard et al., "Parental origin of de novo MECP2 mutations in Rett syndrome", EUR J HUM G, 9(3), 2001, pp. 231-236

Abstract

Rett syndrome (RTT) is a neurodevelopmental disorder occurring almost exclusively in females as sporadic cases. Recently, DNA mutations in the MECP2 gene have been detected in approximately 70% of patients with RTT. To explain the sex-limited expression of RTT, it has been suggested that de novo X-linked mutations occur exclusively in male germ cells resulting therefore only in affected daughters. To test this hypothesis, we have analysed 19 families with RTT syndrome due to MECP2 molecular defects. In seven informative families we have found by DHPLC a nucleotide variant which could be used to differentiate between the maternal and the paternal allele. In each subject investigated from these families, we have amplified specifically each allele and sequenced allele-specific PCR products to identify the allele bearing the mutation as well as the parental origin of each X chromosome. Thisapproach allowed us to determine the parental origin of de novo mutations in all informative families. In five cases, the de novo MECP2 mutations have a paternal origin and in the two other cases a maternal origin. In all transitions at CpG, the de novo mutation observed was of paternal origin. Thehigh frequency of male germ-line transmission of the mutation (71% of RTT informative cases) is consistent with a predominant occurrence of the disease in females.

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Documento generato il 19/01/20 alle ore 09:47:46