Abstract: Objective To determine the mutations of WASP in a WAS patient, and to make custom prenatal testing for the family. Methods Blood samples of the individuals in this family were collected. Mutation screening was carried out by PCR and direct sequencing. 21-trisomy testing and the gender of the fetus were carried out before gene diagnosis for the mutation. Results A double-nucleotide-deletion (c.107-108delTT) was identified in exon 1 of WASP gene in the proband and his mother. The fetus is female and acquires the normal from the mother. Conclusion The c.107-108delTT mutation was responsible for the disease in the family. The fetus is a normal female.

Key words: WAS, WASP gene, Mutations, Custom prenatal testing