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Titolo:
Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications forthe disease
Autore:
Villard, L; Levy, N; Xiang, FQ; Kpebe, A; Labelle, V; Chevillard, C; Zhang, ZP; Schwartz, CE; Tardieu, M; Chelly, J; Anvret, M; Fontes, M;
Indirizzi:
Fac Med Marseille, INSERM, U491, F-13385 Marseille 5, France Fac Med Marseille Marseille France 5 , U491, F-13385 Marseille 5, France Hop Enfants La Timone, Dept Med Genet, Mol Genet Lab, F-13385 Marseille, France Hop Enfants La Timone Marseille France F-13385 F-13385 Marseille, France Karolinska Hosp, Dept Clin Neurosci & Mol Med, SE-17176 Stockholm, Sweden Karolinska Hosp Stockholm Sweden SE-17176 ed, SE-17176 Stockholm, Sweden Fac Med Marseille, INSERM, U399, F-13385 Marseille 5, France Fac Med Marseille Marseille France 5 , U399, F-13385 Marseille 5, France AstraZeneca R&D, Dept Mol Sci, SE-15185 Sodertalje, Sweden AstraZeneca R&D Sodertalje Sweden SE-15185 , SE-15185 Sodertalje, Sweden Greenwood Genet Ctr, Greenwood, SC 29646 USA Greenwood Genet Ctr Greenwood SC USA 29646 t Ctr, Greenwood, SC 29646 USA Hop Kremlin Bicetre, Serv Neurol Pediat, Paris, France Hop Kremlin Bicetre Paris France tre, Serv Neurol Pediat, Paris, France Univ Paris 11, INSERM, CRI 96012, Paris, France Univ Paris 11 Paris France v Paris 11, INSERM, CRI 96012, Paris, France CHU Cochin Port Royal, INSERM, U129, F-75014 Paris, France CHU Cochin PortRoyal Paris France F-75014 , U129, F-75014 Paris, France
Titolo Testata:
JOURNAL OF MEDICAL GENETICS
fascicolo: 7, volume: 38, anno: 2001,
pagine: 435 - 442
SICI:
0022-2593(200107)38:7<435:SOATSP>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
CPG-BINDING PROTEIN-2; LINKAGE ANALYSIS; GENE; LOCALIZATION; XQ28; METHYLATION; REGION;
Keywords:
Rett syndrome; skewed X chromosome inactivation; X chromosome; MECP2;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
22
Recensione:
Indirizzi per estratti:
Indirizzo: Fontes, M Fac Med Marseille, INSERM, U491, 27 Bd Jean Moulin, F-13385 Marseille 5, France Fac Med Marseille 27 Bd Jean Moulin Marseille France 5 , France
Citazione:
L. Villard et al., "Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications forthe disease", J MED GENET, 38(7), 2001, pp. 435-442

Abstract

Background-Rett syndrome is a neurodevelopmental disorder affecting only girls; 99.5% of Rett syndrome cases are sporadic, although several familial cases have been reported. Mutations in the MECP2 gene were identified in approximately 70-80% of sporadic Rett syndrome cases. Methods-We have screened the MECP2 gene coding region for mutations in five familial cases of Rett syndrome and studied the patterns of X chromosome inactivation (XCI) in each girl. Results-We found a mutation in MECP2 in only one family. In the four families without mutation in MECP2, we found that (1) all mothers exhibit a totally skewed pattern of XCI; (2) six out of eight affected girls also have a totally skewed pattern of XCI; and (3) it is the paternally inherited X chromosome which is active in the patients with a skewed pattern of XCI. Giventhat the skewing of XCI is inherited in our families, we genotyped the whole X chromosome using 32 polymorphic markers and we show that a locus potentially responsible for the skewed XCI in these families could be located onthe short arm of the X chromosome. Conclusion-These data led us to propose a model for familial Rett syndrometransmission in which two traits are inherited, an X linked locus abnormally escaping X chromosome inactivation and the presence of a skewed XCI in carrier women.

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Documento generato il 27/01/20 alle ore 01:50:58