de Saint Basile G, Lagelouse R D, Lambert N, Schwarz K, Le Mareck B, Odent S, Schlegel N, Fischer A
INSERM Unité 429, Hôpital Necker-Enfants Malades, Paris, France.
J Pediatr. 1996 Jul;129(1):56-62. doi: 10.1016/s0022-3476(96)70190-7.
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.
威斯科特-奥尔德里奇综合征（WAS）的特征是血小板和淋巴细胞功能缺陷，伴有湿疹以及对恶性肿瘤易感性增加。它由WAS蛋白编码基因（WASP）的突变引起。X连锁血小板减少症，由低血小板计数和体积定义，可能是WAS的等位基因变体。在两个无关家族的XLT患者中，通过单链构象多态性和测序鉴定出WASP基因缺陷。在两个XLT分离的家族的患者中均发现了WASP基因第2外显子的点突变。这些家族的几个必然杂合子女性成员在其外周血白细胞中表现出随机的X失活模式。这项研究表明，XLT可能由WASP突变引起，因此代表WAS的等位基因变体。
