Abstract | OBJECTIVE: METHODS: 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.
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Authors | Li-ping Jiang, You-hua Xu, Xi-qiang Yang, En-mei Liu, Li-jia Wang, Yu-lung Lau, Koon-wing Chan |
Journal | Zhonghua er ke za zhi = Chinese journal of pediatrics
(Zhonghua Er Ke Za Zhi)
Vol. 41
Issue 8
Pg. 590-3
(Aug 2003)
ISSN: 0578-1310 [Print] China |
PMID | 14744380
(Publication Type: Case Reports, Comparative Study, English Abstract, Journal Article)
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Chemical References |
- Proteins
- WAS protein, human
- Wiskott-Aldrich Syndrome Protein
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Topics |
- Blood Platelets
(pathology, ultrastructure)
- Child, Preschool
- DNA Mutational Analysis
- Exons
(genetics)
- Humans
- Infant
- Lymphocytes
(pathology, ultrastructure)
- Male
- Microscopy, Electron, Scanning
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Proteins
(genetics)
- Wiskott-Aldrich Syndrome
(diagnosis, genetics)
- Wiskott-Aldrich Syndrome Protein
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