Title of article
A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency
Author/Authors
Talebi ، Taravat Department of Genetics and Molecular Medicine - School of Medicine - Zanjan University of Medical Sciences (ZUMS) , Biglari ، Alireza Department of Genetics and Molecular Medicine - School of Medicine - Zanjan University of Medical Sciences (ZUMS) , Shahroeei ، Mohammad Department of Microbiology and Immunology - KU Leuven , Changi-Ashtiani ، Majid School of Mathematics - Institute for Research in Fundamental Sciences (IPM) , Dinmohammadi ، Hossein Department of Genetics and Molecular Medicine - School of Medicine - Zanjan University of Medical Sciences (ZUMS) , Navabi ، Shadi Sadat Specialised Immunology Laboratory of Dr. Shahrooei , Parvaneh ، Nima Department of Pediatrics, Division of Allergy and Clinical Immunology - School of Medicine - Tehran University of Medical Sciences , Bossuyt ، Xavier Department of Microbiology and Immunology - KU Leuven , Shahani ، Tina Department of Genetics and Molecular Medicine - School of Medicine - Zanjan University of Medical Sciences (ZUMS) , Rokni-Zadeh ، Hassan Department of Medical Biotechnology - School of Medicine - Zanjan University of Medical Sciences (ZUMS)
Pages
8
From page
94
To page
101
Abstract
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.
Keywords
Adenosine deaminase , Severe combined immunodeficiency , Whole exome sequencing
Journal title
iranian journal of allergy, asthma and immunology
Serial Year
2020
Journal title
iranian journal of allergy, asthma and immunology
Record number
2486097
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