Analysis of clinical and molecular characteristics of Wiskott-Aldrich syndrome in 24 patients from 23 unrelated Chinese families.
The clinical data of 24 children with Wiskott-Aldrich syndrome (WAS) from 23 unrelated Chinese families were reviewed in the present study. WAS protein (WASP) expression in peripheral blood mononuclear cells was examined by flow cytometry (FCM); WASP gene was amplified by PCR and directly sequenced to analyze mutations in the WASP gene in patients and their female relatives. FCM analysis of 21 patients showed that 18 cases were WASP-negative, and three had partially WASP expression. WASP gene analysis revealed mutations in 23 patients, including five missense mutations, four nonsense mutations, four deletion mutations, three insertion mutations, six splice site mutations, and one complex mutation, among which, 20 unique mutations were detected, including seven novel mutations (168 C>A, 747-748del T, 793-797del C, 1185 ins C, Dup 1251-1267, 1277 insA and 1266 C>G; 1267-1269del C). Five WAS children underwent stem cell transplantation. After 2 months of transplantation, WASP expression was restored to normal in all five patients whereas one patient died of cytomegalovirus-induced interstitial lung disease. WASP gene analysis can make a definite diagnosis of WAS and identify mutation carriers, beneficial for timely treatment and genetic counseling for children with WAS.
Zhang
Zhi-Yong
ZY
Children's Hospital, Chongqing Medical University, Chongqing, China.
Xiao
Hui-Qin
HQ
Jiang
Li-Ping
LP
Zhou
Yu
Y
Zhao
Qin
Q
Yu
Jie
J
Liu
Wei
W
Yang
Xi-Qiang
XQ
Zhao
Xiao-Dong
XD
D044466:Asian People; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D005190:Family; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009154:Mutation; D020125:Mutation, Missense; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D012720:Severity of Illness Index; D014923:Wiskott-Aldrich Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology*; D051316:Wiskott-Aldrich Syndrome Protein / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism
D018389:Codon, Nonsense; D051316:Wiskott-Aldrich Syndrome Protein