A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. (Articolo in rivista)

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  • A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. (Articolo in rivista) (literal)
Anno
  • 2006-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1007/s10038-006-0049-6 (literal)
Alternative label
  • Milena Cau; Maria Addis; Rita Congiu; Cristiana Meloni; Antonio Cao; Simona Santaniello; Mario Loi; Francesco Emma; Orsetta Zuffardi; Roberto Ciccone; Gabriella Sole; Maria Antonietta Melis (2006)
    A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.
    in Journal of human genetics (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Milena Cau; Maria Addis; Rita Congiu; Cristiana Meloni; Antonio Cao; Simona Santaniello; Mario Loi; Francesco Emma; Orsetta Zuffardi; Roberto Ciccone; Gabriella Sole; Maria Antonietta Melis (literal)
Pagina inizio
  • 1030 (literal)
Pagina fine
  • 1036 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 51 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 6 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 11 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • M. Cau , M. Addis, R. Congiu, , C. Meloni, S. Santaniello, M. A. Melis: Dipartimento di Scienze Biomediche e Biotecnologie, Universita di Cagliari, Cagliari, Italy A. Cao , G. Sole: Istituto di Neurogenetica e Neurofarmacologia, CNR, Selargius (CA), Italy M. Loi: Servizio di Neuropsichiatria. Azienda Ospedaliera G. Brotzu, Cagliari, Italy F. Emma: Department of Nephrology and dialysis, Bambino Gesu, Children's Research Hospital, Rome, Italy O. Zuffardi, R. Ciccone: Genetica Medica Universita di Pavia, Pavia, Italy O. Zuffardi:IRCSS Policlinico San Matteo, Pavia, Italy (literal)
Titolo
  • A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. (literal)
Abstract
  • In mammals, X-linked gene products can be dosage compensated between males and females by inactivation of one of the two X chromosomes in the developing female embryos. X inactivation choice is usually random in embryo mammals, but several mechanisms can influence the choice determining skewed X inactivation. As a consequence, females heterozygous for X-linked recessive disease can manifest the full phenotype. Herein, we report a family with extremely skewed X inactivation that produced the full phenotype of Lowe syndrome, a recessive X-linked disease, in a female. The X chromosome inactivation studies detected an extremely skewed inactivation pattern with a ratio of 100:0 in the propositus as well as in five out of seven unaffected female relatives in four generations. The OCRL1 ''de novo'' mutation resides in the active paternally inherited X chromosome. X chromosome haplotype analysis suggests the presence of a locus for the familial skewed X inactivation in chromosome Xq25 most likely controlling X chromosome choice in X inactivation or cell proliferation. The description of this case adds Lowe syndrome to the list of X-linked disorders which may manifest the fullphenotype in females because of the skewed X inactivation. (literal)
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