Family-based whole-exome sequencing for identifying novel variants in consanguineous families with schizophrenia
Joint Authors
Shirzad, Hadi
Beiraghi, Narjis
Kachoui, Mojgan Ataei
Akbari, Muhammad Taghi
Source
Iranian Red Crescent Medical Journal
Issue
Vol. 19, Issue 2 (28 Feb. 2017), pp.1-8, 8 p.
Publisher
Publication Date
2017-02-28
Country of Publication
United Arab Emirates
No. of Pages
8
Main Subjects
Abstract EN
Background: Schizophrenia (SCZ) is a complex neuropsychiatric disorder characterized by pronounced genetic heterogeneity.
Much of the genetic architecture of the disorder has not yet been clearly elucidated.
Objectives: In the present experimental genetic analysis study, we used the whole-exome sequencing (WES) approach to identify the SCZ-related genetic variants in consanguineous multi-affected families.
Patients and Methods: The current study was conducted between 2013 and 2015.
The patients were recruited from two mental hospitals, including Razi hospital (Tehran, Iran)andMirzaKoochakKhanhospital (Rasht, Iran).
All patients were diagnosed basedon theDSM-IV-TR diagnostic criteria for SCZ.DNAsamples from one proband for each of the three consanguineous Iranian families with twelve affected patients were subjected to WES.
Then, a multi-step analysis strategy was employed to identify the genetic variants that may have potentially contributed to SCZ.
Results: After variant filtering, WES data revealed two previously known pathogenic mutations (rs450046 in PRODH and rs1800497 in ANKK1 genes) and five novel variants in five genes (NOS1, ANKK1, ARVCF, GRID1, and ANK3), all of which were predicted to be causing damage by SIFT, Polyphen-2, and MutationTaster tools.
Two of these novel variants (c.562C > T in ANKK1 and c.7649G > T in ANK3) showed complete segregation in the families, which makes them good candidates for further case-control studies.
Conclusions: By applying WES, both novel and known SCZ pathogenic variants with complete or incomplete segregation in the families with multiple cases of schizophrenic patients were identified.
American Psychological Association (APA)
Shirzad, Hadi& Beiraghi, Narjis& Kachoui, Mojgan Ataei& Akbari, Muhammad Taghi. 2017. Family-based whole-exome sequencing for identifying novel variants in consanguineous families with schizophrenia. Iranian Red Crescent Medical Journal،Vol. 19, no. 2, pp.1-8.
https://search.emarefa.net/detail/BIM-791772
Modern Language Association (MLA)
Shirzad, Hadi…[et al.]. Family-based whole-exome sequencing for identifying novel variants in consanguineous families with schizophrenia. Iranian Red Crescent Medical Journal Vol. 19, no. 2 (Feb. 2017), pp.1-8.
https://search.emarefa.net/detail/BIM-791772
American Medical Association (AMA)
Shirzad, Hadi& Beiraghi, Narjis& Kachoui, Mojgan Ataei& Akbari, Muhammad Taghi. Family-based whole-exome sequencing for identifying novel variants in consanguineous families with schizophrenia. Iranian Red Crescent Medical Journal. 2017. Vol. 19, no. 2, pp.1-8.
https://search.emarefa.net/detail/BIM-791772
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 7-8
Record ID
BIM-791772