Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population
المؤلفون المشاركون
Limprasert, Pornprot
Puangpetch, Apichaya
Sukasem, Chonlaphat
Thongnak, Chuphong
Tangviriyapaiboon, Duangkamol
Silvilairat, Suchaya
Pasomsub, Ekawat
Chantratita, Wasan
المصدر
العدد
المجلد 2016، العدد 2016 (31 ديسمبر/كانون الأول 2016)، ص ص. 1-10، 10ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2016-11-28
دولة النشر
مصر
عدد الصفحات
10
التخصصات الرئيسية
الملخص EN
Background.
Congenital heart block is characterized by blockage of electrical impulses from the atrioventricular node (AV node) to the ventricles.
This blockage can be caused by ion channel impairment that is the result of genetic variation.
This study aimed to investigate the possible causative variants in a Thai family with complete heart block by using whole exome sequencing.
Methods.
Genomic DNA was collected from a family consisting of five family members in three generations in which one of three children in generation III had complete heart block.
Whole exome sequencing was performed on one complete heart block affected child and one unaffected sibling.
Bioinformatics was used to identify annotated and filtered variants.
Candidate variants were validated and the segregation analysis of other family members was performed.
Results.
This study identified compound heterozygous variants, c.101G>A and c.3832G>A, in the SCN5A gene and c.28730C>T in the TTN gene.
Conclusions.
Compound heterozygous variants in the SCN5A gene were found in the complete heart block affected child but these two variants were found only in the this affected sibling and were not found in other unaffected family members.
Hence, these variants in the SCN5A gene were the most possible disease-causing variants in this family.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Thongnak, Chuphong& Limprasert, Pornprot& Tangviriyapaiboon, Duangkamol& Silvilairat, Suchaya& Puangpetch, Apichaya& Pasomsub, Ekawat…[et al.]. 2016. Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population. Disease Markers،Vol. 2016, no. 2016, pp.1-10.
https://search.emarefa.net/detail/BIM-1103691
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Thongnak, Chuphong…[et al.]. Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population. Disease Markers No. 2016 (2016), pp.1-10.
https://search.emarefa.net/detail/BIM-1103691
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Thongnak, Chuphong& Limprasert, Pornprot& Tangviriyapaiboon, Duangkamol& Silvilairat, Suchaya& Puangpetch, Apichaya& Pasomsub, Ekawat…[et al.]. Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population. Disease Markers. 2016. Vol. 2016, no. 2016, pp.1-10.
https://search.emarefa.net/detail/BIM-1103691
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1103691
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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