![](/images/graphics-bg.png)
Family-based whole-exome sequencing for identifying novel variants in consanguineous families with schizophrenia
المؤلفون المشاركون
Shirzad, Hadi
Beiraghi, Narjis
Kachoui, Mojgan Ataei
Akbari, Muhammad Taghi
المصدر
Iranian Red Crescent Medical Journal
العدد
المجلد 19، العدد 2 (28 فبراير/شباط 2017)، ص ص. 1-8، 8ص.
الناشر
تاريخ النشر
2017-02-28
دولة النشر
الإمارات العربية المتحدة
عدد الصفحات
8
التخصصات الرئيسية
الملخص 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.
نمط استشهاد جمعية علماء النفس الأمريكية (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
نمط استشهاد الجمعية الأمريكية للغات الحديثة (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
نمط استشهاد الجمعية الطبية الأمريكية (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
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 7-8
رقم السجل
BIM-791772
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
![](/images/ebook-kashef.png)
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر
![](/images/kashef-image.png)