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Article: Identification of two novel WASP gene mutations in 3 boys with Wiskott-Aldrich syndrome

TitleIdentification of two novel WASP gene mutations in 3 boys with Wiskott-Aldrich syndrome
兩種新型Wiskott-Aldrich 綜合征蛋白基因突變的鑒定
Authors
Issue Date2003
Publisher中華醫學會. The Journal's web site is located at http://zhek.periodicals.net.cn/
Citation
Zhonghua Er Ke Za Zhi. Chinese Journal Of Pediatrics, 2003, v. 41 n. 8, p. 590-593 How to Cite?
中華兒科雜誌, 2003, v. 41 n. 8, p. 590-593 How to Cite?
AbstractOBJECTIVE: The Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency caused by mutations in the WAS protein (WASP) gene. The disease is characterized by recurrent infections, eczema, and thrombocytopenia with small platelets, and it is known to be associated with extensive clinical variability, and mutation studies indicated that genotypes are also highly variant among WAS patients. The present study was conducted to identify the mutation types of Wiskott-Aldrich syndrome protein (WASP) gene in 3 boys suffering from Wiskott-Aldrich syndrome. METHODS: Based on the typical clinical manifestations of Wiskott-Aldrich syndrome including thrombocytopenia, eczema, and recurrent infections and scanning electron micrographs, 3 patients were suspected of having WAS. The WASP gene of the 3 patients and their mothers were detected by PCR-direct sequencing analysis. RESULTS: By sequence analysis using sense and antisense primer separately, the authors found two novel WASP gene mutations. For the twin brothers, a C deletion at nucleotide 984 was detected in exon 10 of WASP gene (984delC). The consequence of the C deletion involved frameshift mutation after H317 and premature stop at 444 (H317fsX444). Their mother was a carrier of the mutated WASP gene. For another WAS patient, a nonsense mutation with nucleotide substitution of G to T at position 1388 (1388G-->T) in exon 11 of WASP gene, led to premature translational termination at amino acid position 452 (E452X). His mother had not been found to have WASP gene mutation. CONCLUSION: Genetic analysis is useful in definite diagnosis of Wiskott-Aldrich syndrome patients and in carrier detection and prenatal diagnosis, especially of atypical or sporadic WAS patients.
Persistent Identifierhttp://hdl.handle.net/10722/170345
ISSN
2015 SCImago Journal Rankings: 0.146

 

DC FieldValueLanguage
dc.contributor.authorJiang, LPen_US
dc.contributor.authorXu, YHen_US
dc.contributor.authorYang, XQen_US
dc.contributor.authorLiu, EMen_US
dc.contributor.authorWang, LJen_US
dc.contributor.authorLau, YLen_US
dc.contributor.authorChan, KWen_US
dc.date.accessioned2012-10-30T06:07:40Z-
dc.date.available2012-10-30T06:07:40Z-
dc.date.issued2003en_US
dc.identifier.citationZhonghua Er Ke Za Zhi. Chinese Journal Of Pediatrics, 2003, v. 41 n. 8, p. 590-593en_US
dc.identifier.citation中華兒科雜誌, 2003, v. 41 n. 8, p. 590-593-
dc.identifier.issn0578-1310en_US
dc.identifier.urihttp://hdl.handle.net/10722/170345-
dc.description.abstractOBJECTIVE: The Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency caused by mutations in the WAS protein (WASP) gene. The disease is characterized by recurrent infections, eczema, and thrombocytopenia with small platelets, and it is known to be associated with extensive clinical variability, and mutation studies indicated that genotypes are also highly variant among WAS patients. The present study was conducted to identify the mutation types of Wiskott-Aldrich syndrome protein (WASP) gene in 3 boys suffering from Wiskott-Aldrich syndrome. METHODS: Based on the typical clinical manifestations of Wiskott-Aldrich syndrome including thrombocytopenia, eczema, and recurrent infections and scanning electron micrographs, 3 patients were suspected of having WAS. The WASP gene of the 3 patients and their mothers were detected by PCR-direct sequencing analysis. RESULTS: By sequence analysis using sense and antisense primer separately, the authors found two novel WASP gene mutations. For the twin brothers, a C deletion at nucleotide 984 was detected in exon 10 of WASP gene (984delC). The consequence of the C deletion involved frameshift mutation after H317 and premature stop at 444 (H317fsX444). Their mother was a carrier of the mutated WASP gene. For another WAS patient, a nonsense mutation with nucleotide substitution of G to T at position 1388 (1388G-->T) in exon 11 of WASP gene, led to premature translational termination at amino acid position 452 (E452X). His mother had not been found to have WASP gene mutation. CONCLUSION: Genetic analysis is useful in definite diagnosis of Wiskott-Aldrich syndrome patients and in carrier detection and prenatal diagnosis, especially of atypical or sporadic WAS patients.en_US
dc.languageengen_US
dc.publisher中華醫學會. The Journal's web site is located at http://zhek.periodicals.net.cn/en_US
dc.relation.ispartofZhonghua er ke za zhi. Chinese journal of pediatricsen_US
dc.subject.meshBlood Platelets - Pathology - Ultrastructureen_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshExons - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshLymphocytes - Pathology - Ultrastructureen_US
dc.subject.meshMaleen_US
dc.subject.meshMicroscopy, Electron, Scanningen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshMutationen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshProteins - Geneticsen_US
dc.subject.meshWiskott-Aldrich Syndrome - Diagnosis - Geneticsen_US
dc.subject.meshWiskott-Aldrich Syndrome Proteinen_US
dc.titleIdentification of two novel WASP gene mutations in 3 boys with Wiskott-Aldrich syndromeen_US
dc.title兩種新型Wiskott-Aldrich 綜合征蛋白基因突變的鑒定-
dc.typeArticleen_US
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_US
dc.identifier.authorityLau, YL=rp00361en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid14744380-
dc.identifier.scopuseid_2-s2.0-2342578052en_US
dc.identifier.hkuros84393-
dc.identifier.volume41en_US
dc.identifier.issue8en_US
dc.identifier.spage590en_US
dc.identifier.epage593en_US
dc.publisher.placeChinaen_US
dc.identifier.scopusauthoridJiang, LP=35285772300en_US
dc.identifier.scopusauthoridXu, YH=23471078700en_US
dc.identifier.scopusauthoridYang, XQ=13606095400en_US
dc.identifier.scopusauthoridLiu, EM=7202240063en_US
dc.identifier.scopusauthoridWang, LJ=7409179038en_US
dc.identifier.scopusauthoridLau, YL=7201403380en_US
dc.identifier.scopusauthoridChan, KW=8587755300en_US

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