Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing
المؤلفون المشاركون
Khan, Md. Asaduzzaman
Zhou, Qi
Cheng, Jingliang
Yang, Weichan
Tania, Mousumi
Wang, Hui
Duan, Chengxia
Zhu, Li
Chen, Rui
Lv, Hongbin
Fu, Junjiang
المصدر
العدد
المجلد 2015، العدد 2015 (31 ديسمبر/كانون الأول 2015)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2015-05-17
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
Background.
Retinitis pigmentosa (RP) is an inherited retinal degenerative disease, which is clinically and genetically heterogeneous, and the inheritance pattern is complex.
In this study, we have intended to study the possible association of certain genes with X-linked RP (XLRP) in a Chinese family.
Methods.
A Chinese family with RP was recruited, and a total of seven individuals were enrolled in this genetic study.
Genomic DNA was isolated from peripheral leukocytes, and used for the next generation sequencing (NGS).
Results.
The affected individual presented the clinical signs of XLRP.
A heterozygous missense mutation (c.1555C>T, p.R519W) was identified by NGS in exon 13 of the CACNA1F gene on X chromosome, and was confirmed by Sanger sequencing.
It showed perfect cosegregation with the disease in the family.
The mutation at this position in the CACNA1F gene of RP was found novel by database searching.
Conclusion.
By using NGS, we have found a novel heterozygous missense mutation (c.1555C>T, p.R519W) in CACNA1F gene, which is probably associated with XLRP.
The findings might provide new insights into the cause and diagnosis of RP, and have implications for genetic counseling and clinical management in this family.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Zhou, Qi& Cheng, Jingliang& Yang, Weichan& Tania, Mousumi& Wang, Hui& Khan, Md. Asaduzzaman…[et al.]. 2015. Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing. BioMed Research International،Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1057192
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Zhou, Qi…[et al.]. Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing. BioMed Research International No. 2015 (2015), pp.1-7.
https://search.emarefa.net/detail/BIM-1057192
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Zhou, Qi& Cheng, Jingliang& Yang, Weichan& Tania, Mousumi& Wang, Hui& Khan, Md. Asaduzzaman…[et al.]. Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1057192
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1057192
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