A novel splice site mutation in the WAS gene causes Wiskott???Aldrich syndrome in two siblings of a Saudi family

2004 ◽  
Vol 15 (7) ◽  
pp. 599-603
Author(s):  
Khaled K Abu-Amero ◽  
Tarek M Owaidah ◽  
Abduallah Al Jefri ◽  
Abdulaziz Al-Ghonaium ◽  
Ibrahim M Fawaz ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Wiskott Aldrich Syndrome ◽  
Saudi Family ◽  
Was Gene

A novel splice site mutation in the WAS gene causes Wiskott–Aldrich syndrome in two siblings of a Saudi family

2004 ◽  
Vol 15 (7) ◽  
pp. 599-603
Author(s):  
Khaled K Abu-Amero ◽  
Tarek M Owaidah ◽  
Abduallah Al Jefri ◽  
Abdulaziz Al-Ghonaium ◽  
Ibrahim M Fawaz ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Wiskott Aldrich Syndrome ◽  
Saudi Family ◽  
Was Gene

scholarly journals A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Hossein Esmaeilzadeh ◽  
Mohammad Reza Bordbar ◽  
Hassan Dastsooz ◽  
Mohammad Silawi ◽  
Mohammad Ali Farazi Fard ◽  
...  
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Chronic Colitis ◽  
Site Mutation ◽  
Wiskott Aldrich Syndrome ◽  
Was Gene

scholarly journals The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene

Blood ◽  
1995 ◽  
Vol 86 (10) ◽  
pp. 3797-3804 ◽  
Author(s):  
Q Zhu ◽  
M Zhang ◽  
RM Blaese ◽  
JM Derry ◽  
A Junker ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Point Mutations ◽  
Gene Mutations ◽  
Exon Skipping ◽  
Splice Site Mutation ◽  
Missense Mutations ◽  
Site Mutation ◽  
Exon 2 ◽  
Wiskott Aldrich Syndrome ◽  
Was Gene

The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by thrombocytopenia, small platelets, eczema, recurrent infections, and immunodeficiency. Besides the classic WAS phenotype, there is a group of patients with congenital X-linked thrombocytopenia (XLT) who have small platelets but only transient eczema, if any, and minimal immune deficiency. Because the gene responsible for WAS has been sequenced, it was possible to correlate the WAS phenotypes with WAS gene mutations. Using a fingerprinting screening technique, we determined the approximate location of the mutation in 13 unrelated WAS patients with mild to severe clinical symptoms. Direct sequence analysis of cDNA and genomic DNA obtained from patient-derived cell lines showed 12 unique mutations distributed throughout the WAS gene, including insertions, deletions, and point mutations resulting in amino acid substitutions, termination, exon skipping, or splicing defects. Of 4 unrelated patients with the XLT phenotype, 3 had missense mutations affecting exon 2 and 1 had a splice-site mutation affecting exon 9. Patients with classic WAS had more complex mutations, resulting in termination codons, frameshift, and early termination. These findings provide direct evidence that XLT and WAS are caused by mutations of the same gene and suggest that severe clinical phenotypes are associated with complex mutations.

A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family

2013 ◽  
Vol 56 (1) ◽  
pp. 43-45 ◽  
Author(s):  
Salma M. Wakil ◽  
Saeed Bohlega ◽  
Samya Hagos ◽  
Batoul Baz ◽  
Haya Al Dossari ◽  
...  
Keyword(s):  
Splice Site ◽  
Hereditary Spastic Paraplegia ◽  
Splice Site Mutation ◽  
Spastic Paraplegia ◽  
Site Mutation ◽  
Saudi Family

scholarly journals Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome

2003 ◽  
Vol 48 (11) ◽  
pp. 590-593 ◽  
Author(s):  
Nuria Andreu ◽  
Carmen Carreras ◽  
Félix Prieto ◽  
Xavier Estivill ◽  
Victor Volpini ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Wiskott Aldrich Syndrome ◽  
Identification And Characterization

Emery-Dreifuss Muscular Dystrophy Type 1 in a 15-Year-Old Patient Due to a Novel Putative Splice-Site Mutation

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
O. Schwartz ◽  
J. Althaus ◽  
B. Fiedler ◽  
K. Heß ◽  
W. Paulus ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation

A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation

2018 ◽  
Vol 70 (5) ◽  
Author(s):  
Melahat M. Oguz ◽  
Meltem Akcaboy ◽  
Asuman Gurkan ◽  
Esma Altinel Acoglu ◽  
Pelin Zorlu ◽  
...  
Keyword(s):  
Splice Site ◽  
Fever Of Unknown Origin ◽  
Ectodermal Dysplasia ◽  
Splice Site Mutation ◽  
Unknown Origin ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Site Mutation
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