Objective    To study genotype-phenotype correlation preliminarily in 24 Chinese Wiskott-Aldrich syndrome (WAS) patients.     Methods    Clinical data of 24 Chinese male WAS patients from 21 unrelated families were collected

then patients’ phenotypes were scored according to international scoring standards. Flow cytometry was used to analyze WAS protein (WASP) expression in peripheral blood mononuclear cells (PBMCs). WASP gene was directly sequenced

then the genotype-phenotype correlation was analyzed.     Results     Among the 24 patients

2 of them were X-linked thrombocytopenia (XLT）with scores 2

and the others were classic WAS with scores 3 to 5. WASP of 1 patient was of normal expression

that of 2 was of reduced expression

and that of the others was of negative expression. We had found 7 missenses

4 nonsenses

6 deletions

and 7 splice site mutations. Among 21 detected unique mutations

there were 3 novel mutations

that is

180 CT (A49V)

342-343del CA (S103fsX121) and IVS7+2 TC. There were 6 hot spot mutations were reported which were 291 GA（R86H）

291GT（R86L）

1035del G（G334fsX444）

665 CT（R211X）

IVS6+5 GA and IVS8+1 GA. Two of all missense mutation patients were XLT

the others were classic WAS. All nonsense

deletion and splice site mutations patients were classic WAS

some of whose phenotype were severe.     Conclusion    Mutations in downstream of WASP gene

nonsense

deletion and splice site mutations probably lead to negative expression of WASP

unstable or trancated WASP production

with typical clinical manifestations of WAS. What’s more

environmental affections might worsen patients phenotypes.