Two sisters with clinical diagnosis of Wiskott‐Aldrich syndrome: Is the condition in the family autosomal recessive?

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Abstract
We report two sisters in a family representing manifestations of Wiskott‐Aldrich syndrome' (WAS), an X‐linked immunodeficiency disorder. An elder sister had suffered from recurrent infections, small thrombocy‐topenic petechiae, purpura, and eczema for 7 years. The younger sister had the same manifestations as the elder sister's for a 2‐year period, and died of intracranial bleeding at age 2 years. All the laboratory data of the two patients were compatible with WAS, although they were females. Sialophorin analysis with the selective radioactive labeling method of this protein revealed that in the elder sister a 115‐KD band that should be specific for sialophorin was reduced in quantity, and instead an additional 135‐KD fragment was present as a main band. Poly‐merase chain reaction (PCR) analysis of the sialophorin gene and single‐strand conformation polymorphism (SSCP) analysis of the PCR product demonstrated that there were no detectable size‐change nor elec‐trophoretic mobility change in the DNA from both patients. The results indicated that their sialophorin gene structure might be normal. Studies on the mother‐daughter transmission of X chromosome using a pERT84‐MaeIII polymorphic marker mapped at Xp21 and HPRT gene polymorphism at Xq26 suggested that each sister had inherited a different X chromosome from the mother. Two explanations are plausible for the occurrence of the WAS in our patients: the WAS in the patients is attributable to an autosomal gene mutation which may regulate the sialophorin gene expression through the WAS gene, or, alternatively, the condition in this family is an autosomal recessive disorder separated etiologically from the X‐linked WAS.