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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2018

Open Access 01-12-2018 | Case report

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

Authors: Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Hassan Dastsooz, Mohammad Silawi, Mohammad Ali Farazi Fard, Ali Adib, Ali Kafashan, Zahra Tabatabaei, Forough Sadeghipour, Mohammad Ali Faghihi

Published in: BMC Medical Genetics | Issue 1/2018

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Abstract

Background

Wiskott-Aldrich syndrome is an X-linked recessive immunodeficiency due to mutations in Wiskott-Aldrich syndrome (WAS) gene. WAS gene is encoded for a multifunctional protein with key roles in actin polymerization, signaling pathways, and cytoskeletal rearrangement. Therefore, the impaired protein or its absence cause phenotypic spectrum of the disease. Since identification of novel mutations in WAS gene can help uncover the exact pathogenesis of Wiskott-Aldrich syndrome, the purpose of this study was to investigate disease causing-mutation in an Iranian male infant suspicious of this disorder.

Case presentation

The patient had persistent thrombocytopenia from birth, sepsis, and recurrent gastrointestinal bleeding suggestive of both Wiskott-Aldrich syndrome and chronic colitis in favor of inflammatory bowel disease (IBD). To find mutated gene in the proband, whole exome sequencing was performed for the patient and its data showed a novel, private, hemizygous splice site mutation in WAS gene (c.360 + 1G > C).

Conclusions

Our study found a novel, splice-site mutation in WAS gene and help consider the genetic counselling more precisely for families with clinical phenotypes of both Wiskott-Aldrich syndrome and inflammatory bowel disease and may suggest linked pathways between these two diseases.
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Metadata
Title
A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report
Authors
Hossein Esmaeilzadeh
Mohammad Reza Bordbar
Hassan Dastsooz
Mohammad Silawi
Mohammad Ali Farazi Fard
Ali Adib
Ali Kafashan
Zahra Tabatabaei
Forough Sadeghipour
Mohammad Ali Faghihi
Publication date
01-12-2018
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2018
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/s12881-018-0647-0

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