Nature Genetics
9, 414 - 417 (1995)
doi:10.1038/ng0495-414
X−linked thrombocytopenia and Wiskott−Aldrich syndrome are allelic diseases with mutations in the WASP geneAnna Villa1, Luigi Notarangelo2, Paolo Macchi1, Elide Mantuano3, Giovanni Cavagni2, Duilio Brugnoni4, Dario Strina1, M Cristina Patrosso1, Ugo Ramenghi5, Maria Grazia Sacco1, Alberto Ugazio2
& Paolo Vezzoni1
1Istituto di Tecnologie Biomediche Avanzate, CNR, Milano, Italy
2Dipartimento di Pediatria and Università di Brescia, Italy
3Istituto di Chimica, Università di Brescia, Italy
4Servizio di Immunologia Clinica, Spedali Civili, Brescia, Italy
5Divisione di Ematologia, Istituto di Clinica Pediatrica, Università di Torino, Italy Correspondence should be addressed to A.V. X−linked thrombocytopenia (XLT) is a rare recessive hereditary disorder characterized by isolated thrombocytopenia with small−sized platelets. The XLT locus has been located to chromosome Xp11 by linkage analysis, which is also where the recently cloned Wiskott−Aldrich syndrome (WAS) gene, maps. The relationship between XLT and WAS has long been debated; they might be due to different mutations of the same gene or to mutations in different genes. We now show that mutations in the WAS gene, different from those found in WAS patients, are present in three unrelated male patients with isolated thrombocytopenia and small−sized platelets. Our results demonstrate that XLT and WAS are allelic forms of the same disease, but the causes of the differences need to be further investigated.
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