Repository of Research and Investigative Information

Repository of Research and Investigative Information

دانشگاه علوم پزشکی و خدمات بهداشتی درمانی زنجان

A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency.

(2020) 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. pp. 94-101. ISSN 1735-5249 (Electronic)

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Official URL: https://ijaai.tums.ac.ir/index.php/ijaai/article/v...

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.

Item Type: Article
Keywords: Adenosine deaminase, Severe combined immunodeficiency, Whole exome sequencing
Subjects: QU Biochemistry. Cell Biology and Genetics > QU 300-560 Cell Biology and Genetics
QW Microbiology and Immunology > QW 501-949 Immunology
Divisions: Education Vice-Chancellor Department > Faculty of Medicine > Department of Basic Science > Department of Molecular Medicine and Genetics
Page Range: pp. 94-101
Journal or Publication Title: Iranian journal of allergy, asthma, and immunology
Abstract and Indexing: ISI, Pubmed, Scopus
Quartile : Q4
Volume: 19
Number: 1
Publisher: ProQuest
Identification Number: https://doi.org/10.18502/ijaai.v19i1.2422
ISSN: 1735-5249 (Electronic)
Depositing User: خانم فائزه مظفری
URI: http://repository.zums.ac.ir/id/eprint/6978

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