A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency
Severe combined immunodeficiency (SCID) comprises a heterogeneous group of genetic disorders caused by early defects in the development and function of T cells. Other lymphocyte lineages (B and/or natural killer cells) are variably affected. With a worldwide frequency of approximately 1:50,000 live...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Tehran University of Medical Sciences
2020-02-01
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| Series: | Iranian Journal of Allergy, Asthma and Immunology |
| Subjects: | |
| Online Access: | https://ijaai.tums.ac.ir/index.php/ijaai/article/view/2364 |
| _version_ | 1823994383193604096 |
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| author | Taravat Talebi Alireza Biglari Mohammad Shahroeei Majid Changi-Ashtiani Hossein Dinmohammadi Shadi Sadat Navabi Nima Parvaneh Xavier Bossuyt Tina Shahani Hassan Rokni-Zadeh |
| author_facet | Taravat Talebi Alireza Biglari Mohammad Shahroeei Majid Changi-Ashtiani Hossein Dinmohammadi Shadi Sadat Navabi Nima Parvaneh Xavier Bossuyt Tina Shahani Hassan Rokni-Zadeh |
| author_sort | Taravat Talebi |
| collection | DOAJ |
| description | Severe combined immunodeficiency (SCID) comprises a heterogeneous group of genetic disorders caused by early defects in the development and function of T cells. Other lymphocyte lineages (B and/or natural killer cells) are variably affected. With a worldwide frequency of approximately 1:50,000 live births, SCID may result from diverse mutations in over 16 genes. Whole-exome sequencing (WES) provides an opportunity for parallel screening of all those genes. This approach is also useful for genetic diagnosis in parents whose infant expired before genetic testing. Here, we describe a heterozygous novel non-frameshift deletion (c.587_598del p.196_199del) in the adenosine deaminase (ADA) gene identified by WES in healthy parents of an expired child with SCID. The mutation was subsequently confirmed to be homozygous in the deceased baby whose left-over blood sample volume was insufficient for direct WES analysis. In conclusion, we here describe a novel mutation in ADA, a well-known SCID gene. |
| first_indexed | 2024-12-18T16:34:50Z |
| format | Article |
| id | doaj.art-25733ff347694435b9b970dd526aa7ab |
| institution | Directory Open Access Journal |
| issn | 1735-1502 1735-5249 |
| language | English |
| last_indexed | 2024-12-18T16:34:50Z |
| publishDate | 2020-02-01 |
| publisher | Tehran University of Medical Sciences |
| record_format | Article |
| series | Iranian Journal of Allergy, Asthma and Immunology |
| spelling | doaj.art-25733ff347694435b9b970dd526aa7ab2022-12-21T21:01:23ZengTehran University of Medical SciencesIranian Journal of Allergy, Asthma and Immunology1735-15021735-52492020-02-0119110.18502/ijaai.v19i1.24222364A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined ImmunodeficiencyTaravat Talebi0Alireza Biglari1Mohammad Shahroeei2Majid Changi-Ashtiani3Hossein Dinmohammadi4Shadi Sadat Navabi5Nima Parvaneh6Xavier Bossuyt7Tina Shahani8Hassan Rokni-Zadeh9Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, IranDepartment of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, IranClinical and Diagnostic Immunology, Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium AND Specialised Immunology Laboratory of Dr. Shahrooei, Ahvaz, IranSchool of Mathematics, Institute for Research in Fundamental Sciences (IPM), Tehran, IranDepartment of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, IranSpecialised Immunology Laboratory of Dr. Shahrooei, Ahvaz, IranDepartment of Pediatrics, Division of Allergy and Clinical Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, IranClinical and Diagnostic Immunology, Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium AND Department of Laboratory Medicine, University Hospitals Leuven, Leuven, BelgiumDepartment of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, IranDepartment of Medical Biotechnology, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, IranSevere combined immunodeficiency (SCID) comprises a heterogeneous group of genetic disorders caused by early defects in the development and function of T cells. Other lymphocyte lineages (B and/or natural killer cells) are variably affected. With a worldwide frequency of approximately 1:50,000 live births, SCID may result from diverse mutations in over 16 genes. Whole-exome sequencing (WES) provides an opportunity for parallel screening of all those genes. This approach is also useful for genetic diagnosis in parents whose infant expired before genetic testing. Here, we describe a heterozygous novel non-frameshift deletion (c.587_598del p.196_199del) in the adenosine deaminase (ADA) gene identified by WES in healthy parents of an expired child with SCID. The mutation was subsequently confirmed to be homozygous in the deceased baby whose left-over blood sample volume was insufficient for direct WES analysis. In conclusion, we here describe a novel mutation in ADA, a well-known SCID gene.https://ijaai.tums.ac.ir/index.php/ijaai/article/view/2364Adenosine deaminaseSevere combined immunodeficiencyWhole exome sequencing |
| spellingShingle | Taravat Talebi Alireza Biglari Mohammad Shahroeei Majid Changi-Ashtiani Hossein Dinmohammadi Shadi Sadat Navabi Nima Parvaneh Xavier Bossuyt Tina Shahani Hassan Rokni-Zadeh A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency Iranian Journal of Allergy, Asthma and Immunology Adenosine deaminase Severe combined immunodeficiency Whole exome sequencing |
| title | A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency |
| title_full | A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency |
| title_fullStr | A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency |
| title_full_unstemmed | A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency |
| title_short | A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency |
| title_sort | novel non frameshift ada deletion detected by whole exome sequencing in an iranian family with severe combined immunodeficiency |
| topic | Adenosine deaminase Severe combined immunodeficiency Whole exome sequencing |
| url | https://ijaai.tums.ac.ir/index.php/ijaai/article/view/2364 |
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