Clinical features, genotype and phenotype analysis and literature review of Wiskott-Aldrich syndrome / 中华实用儿科临床杂志

ABSTRACT

Objective To explore the clinical and genetic characteristics,protein expression of Wiskott-Aldrich syndrome (WAS).Methods 1.Clinical data of a Chinese sick boy patient who was treated in the First Affiliated Hospital of Guangxi Medical University was collected,and DNA samples were obtained from the patient and his mother,12 WAS gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing,and then the protein expression was analyzed by Western blot.2.China National Knowledge Infrastructure (CNKI) was searched to identify the clinical data and clear genetic diagnosis of WAS literature from Jan.1991 to Oet.2013,combined with the case of WAS patient treated in this hospital,and a retrospective relationship analysis was made among WAS phenotype,genotype and protein phenotype in China.Results 1.The boy had a classical WAS phenotype,his clinical scores were 4.Sequencing revealed a nonsense mutation in exon 1,c.71C ＞ T (p.R13X).Western blot analysis revealed WASP-.The patient's mother was normal It's a de novo mutation in the patient.2.Other 53 cases of WAS patients had been reported,and they were all are male children,onset age from 1 day to 3 years.Forty-nine cases of typical WAS views,4 cases of X-linked thrombocytopenia (XLT).Immunological tests lack of specificity,mutant gene distribute in each exons except 4,5,6,9,12 and 1,3,6,7,8,9,11 introns.Protein detection was mostly negative.Conclusions Affected males who presented recurrent infections,persistent thrombocytopenia and eczema,should be considered to have the possibility of suffering from the WAS.Genetic diagnosis is the golden standard to diagnose the disease.And detection of protein expression can help define the relationship amone phenotype,genotype and protein phenotype.