PMID- 30738478
OWN - NLM
STAT- MEDLINE
DCOM- 20190404
LR  - 20190404
IS  - 1009-2137 (Print)
IS  - 1009-2137 (Linking)
VI  - 27
IP  - 1
DP  - 2019 Feb
TI  - [Analysis of Correlation of WAS Gene Mutations with Clinical Phenotype].
PG  - 246-252
LID - 10.7534/j.issn.1009-2137.2019.01.040 [doi]
AB  - OBJECTIVE: To investigate the gene mutation of patients with WAS gene defect and 
      its correlation with clinical manifestations. METHODS: Thirty-one patients 
      consulted in Children's Hospital of Soochow University from January 2013 to 
      February 2018 were enrolled in this study. The hot pot mutations of WAS gene in 
      31 patients were detected and related clinical phenotypes were analyzed 
      retrospectively. RESULTS: All patients were male. The median onset age was 1 
      month (range, 0-83 months). Nine mutants were reported as novel mutations among 
      25 mutants detected in 31 patients, including c.1234_1235dupCC, c.1093-1097delG, 
      c.28-30dupC, c.436G>T, c.273 + 10_273 + 11dupCC, c.995_996insG, c.1010T>A, 
      c.332_333delCC and c.683C>T mutations. There were 25 cases of classic WAS which 
      mutations included missense mutation, deletion mutation, insertion mutation, 
      splicing mutation and nonsense mutation, 2 cases of X-linked thrombocytopenia 
      (XLT) were induced by missense mutation, 1 case of intermittent X-linked 
      thrombocytopenia (IXLT) was induced by splicing mutation, 2 cases of X-linked 
      pancytopenia were induced by missense mutation. Intravenous immunoglobulin (IVIG) 
      and glucocorticoid therapy in IXLT patient was effective, and remission could be 
      sustained, platelets could be increased in the short-term in treated XLT 
      patients, but only a small part of classic WAS patients(8.0%) showed transient 
      response to it, the IVIG and glucocorticoid therapy did not improve the status of 
      platelet in XLP patients. Immune laboratory examination showed that CD3(+) was 
      decreased in 60.0% patients, CD19(+) was decreased in 12.0% patients, and 
      CD56(+)CD16(+) in 4 patients was decreased, accounting for 16.0%. Out of 24 
      patients, 22 patients were alive after treated with hematopoietic stem cell 
      transplantation (HSCT), 4 patients who were not given HSCT died of brain bleeding 
      and severe infection, 1 patient diagnosed as IXLT got remission and survived. 
      CONCLUSION: WAS gene defect is an important basis for the diagnosis of WAS and 
      related diseases. IVIG plus glucocorticoid therapy is less effective for fewer 
      patients, the HSCT is an effective treatment for WAS.
FAU - Zheng, Yun-Jing
AU  - Zheng YJ
AD  - Department of Hematology, The Affiliated Children's Hospital of Soochow 
      University, Suzhou 215000, Jiangsu Province, China.
FAU - Lu, Qin
AU  - Lu Q
AD  - Department of Hematology, The Affiliated Children's Hospital of Soochow 
      University, Suzhou 215000, Jiangsu Province, China.
FAU - Yao, Yan-Hua
AU  - Yao YH
AD  - Department of Hematology, The Affiliated Children's Hospital of Soochow 
      University, Suzhou 215000, Jiangsu Province, China.
FAU - He, Hai-Long
AU  - He HL
AD  - Department of Hematology, The Affiliated Children's Hospital of Soochow 
      University, Suzhou 215000, Jiangsu Province, China.
FAU - Li, Jian-Qin
AU  - Li JQ
AD  - Department of Hematology, The Affiliated Children's Hospital of Soochow 
      University, Suzhou 215000, Jiangsu Province, China.
FAU - Xiao, Pei-Fang
AU  - Xiao PF
AD  - Department of Hematology, The Affiliated Children's Hospital of Soochow 
      University, Suzhou 215000, Jiangsu Province, China.
FAU - Hu, Shao-Yan
AU  - Hu SY
AD  - Department of Hematology, The Affiliated Children's Hospital of Soochow 
      University, Suzhou 215000, Jiangsu Province, China.E-mail: hsy139@126.com.
LA  - chi
PT  - Journal Article
PL  - China
TA  - Zhongguo Shi Yan Xue Ye Xue Za Zhi
JT  - Zhongguo shi yan xue ye xue za zhi
JID - 101084424
RN  - 0 (WAS protein, human)
RN  - 0 (Wiskott-Aldrich Syndrome Protein)
SB  - IM
MH  - *Genetic Diseases, X-Linked
MH  - Humans
MH  - Male
MH  - Mutation
MH  - Phenotype
MH  - Retrospective Studies
MH  - *Thrombocytopenia
MH  - Wiskott-Aldrich Syndrome Protein/*genetics
EDAT- 2019/02/11 06:00
MHDA- 2019/04/05 06:00
CRDT- 2019/02/11 06:00
PHST- 2019/02/11 06:00 [entrez]
PHST- 2019/02/11 06:00 [pubmed]
PHST- 2019/04/05 06:00 [medline]
AID - 1009-2137(2019)01-0246-07 [pii]
AID - 10.7534/j.issn.1009-2137.2019.01.040 [doi]
PST - ppublish
SO  - Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2019 Feb;27(1):246-252. doi: 
      10.7534/j.issn.1009-2137.2019.01.040.