Emerging mutation and expression analysis of WAS gene c.1339-12T＞A
Objective To identify the pathogenic gene locus of Wiskott-Aldrich syndrome(WAS)in a family of eczema thrombocytopenia with immune deficiency syndrome,and to provide evidence for clinical diagnosis and preimplantation genetic detection(PGT).Methods Targeted capture technology and high-throughput sequencing technology were used to perform whole exome sequen-cing in the pedigree to screen pathogenic gene loci and analyze the carrying status of pathogenic genes in the families.Using RT-PCR,electrophoresis and Sanger sequencing to verify whether the mutation at the splicing site leaded to transcription splicing abnormalities.Results The sequencing results showed that the mother of the patient carried a heterozygous mutation of the WAS gene c.1339-12T＞A,which formed an abnormal transcript with a 10-base insertion during transcription,causing a frameshift mutation,and the encoded protein formed the products with 3 more amino acids.The mutation occured very infrequently in the population,and there were no reports on this mutation.Conclusion Heterozygous mutation of WAS gene c.1339-12T＞A may be the pathogenic gene of male children in this family.Gene expression analysis of the loci with unclear clinical significance can clarify its pathogenic significance and provide the evidence for clinical diagnosis,genetic counseling and PGT treatment of the disease.
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