A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report
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...
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| Format: | Article |
| Language: | English |
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BMC
2018-07-01
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| Series: | BMC Medical Genetics |
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| Online Access: | http://link.springer.com/article/10.1186/s12881-018-0647-0 |
| _version_ | 1818617168724492288 |
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| author | Hossein Esmaeilzadeh Mohammad Reza Bordbar Hassan Dastsooz Mohammad Silawi Mohammad Ali Farazi Fard Ali Adib Ali Kafashan Zahra Tabatabaei Forough Sadeghipour Mohammad Ali Faghihi |
| author_facet | Hossein Esmaeilzadeh Mohammad Reza Bordbar Hassan Dastsooz Mohammad Silawi Mohammad Ali Farazi Fard Ali Adib Ali Kafashan Zahra Tabatabaei Forough Sadeghipour Mohammad Ali Faghihi |
| author_sort | Hossein Esmaeilzadeh |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-16T17:01:25Z |
| format | Article |
| id | doaj.art-b559c3c3cd7a4e53907ec410021086af |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-16T17:01:25Z |
| publishDate | 2018-07-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-b559c3c3cd7a4e53907ec410021086af2022-12-21T22:23:43ZengBMCBMC Medical Genetics1471-23502018-07-011911610.1186/s12881-018-0647-0A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case reportHossein Esmaeilzadeh0Mohammad Reza Bordbar1Hassan Dastsooz2Mohammad Silawi3Mohammad Ali Farazi Fard4Ali Adib5Ali Kafashan6Zahra Tabatabaei7Forough Sadeghipour8Mohammad Ali Faghihi9Allergy Research Center, Shiraz University of Medical SciencesHematology Research Center, Shiraz University of Medical SciencesPersian Bayan Gene Research and Training Institute, Faghihi Medical Genetics CenterPersian Bayan Gene Research and Training Institute, Faghihi Medical Genetics CenterPersian Bayan Gene Research and Training Institute, Faghihi Medical Genetics CenterAllergy Research Center, Shiraz University of Medical SciencesDepartment of Allergy and Clinical Immunology, Namazi Hospital, ShirazPersian Bayan Gene Research and Training Institute, Faghihi Medical Genetics CenterPersian Bayan Gene Research and Training Institute, Faghihi Medical Genetics CenterPersian Bayan Gene Research and Training Institute, Faghihi Medical Genetics CenterAbstract 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.http://link.springer.com/article/10.1186/s12881-018-0647-0Wiskott-Aldrich syndromeSplice site mutationWAS geneChronic colitisCase report |
| spellingShingle | Hossein Esmaeilzadeh Mohammad Reza Bordbar Hassan Dastsooz Mohammad Silawi Mohammad Ali Farazi Fard Ali Adib Ali Kafashan Zahra Tabatabaei Forough Sadeghipour Mohammad Ali Faghihi A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report BMC Medical Genetics Wiskott-Aldrich syndrome Splice site mutation WAS gene Chronic colitis Case report |
| title | A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report |
| title_full | A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report |
| title_fullStr | A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report |
| title_full_unstemmed | A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report |
| title_short | A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report |
| title_sort | novel splice site mutation in was gene in patient with wiskott aldrich syndrome and chronic colitis a case report |
| topic | Wiskott-Aldrich syndrome Splice site mutation WAS gene Chronic colitis Case report |
| url | http://link.springer.com/article/10.1186/s12881-018-0647-0 |
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