Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene - 12/10/17
Abstract |
The Wiskott-Aldrich syndrome (WAS) is characterized by defective platelet and lymphocyte function associated with eczema and increased susceptibility to malignancies. It is caused by mutations of the WAS protein-encoding gene (WASP). X-lined thrombocytopenia, defined by low platelet counts and volume, may be an allelic variant of WAS. In patients with XLT from two unrelated families, WASP gene defects were identified by single-strand conformational polymorphism and by sequencing. Point mutations in exon 2 of the WASP gene were found in the patients from both families in which XLT segregated. Several obligate heterozygote female members of these families display a random pattern of X inactivation in their peripheral blood leukocytes. This study shows that XLT may be caused by mutations of the WASP, thus representing an allelic variant of WAS. (J PEDIATR 1996;129:56-62)
Le texte complet de cet article est disponible en PDF.Abbreviations : PCR, WAS, WASP, XLT
Plan
 | From INSERM Unité 429, Hôpital Necker-Enfants Malades, and the Hematology Laboratory, Hôpital Robert Debré, Paris, France; the Molecular Biology Unit, Department of Pediatrics, Kinder Klinik, Ulm, Germany; and Centre Hospitalier Régional et Universitaire de Rennes, Department of Pediatrics and Medical Genetics, Hôpital de Pontchailllou, Rennes, France |
| Supported by grants from the Association Française contre les Myopathies, Groupe de Recherche et Etude sur le Gènome (GREG), Caisse Nationale d'Assurance Maladie des Travailleurs Salariés, the European BIOMED concerted action “PL1321,” and INSERM. |
 | Reprint requests: Geneviève de Saint Basile, MD, PhD, INSERM U429, Ho̧pital Necker-Enfants Malades, 149, rue de Sèvres-75015 Paris, Cedex, France. |
| 0022-3476/96/$5.00 + 0 9/20/73296 |
Vol 129 - N° 1
P. 56-62 - juillet 1996 Retour au numéro
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