Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy
المؤلفون المشاركون
Xu, Hongbo
Deng, Hao
Qin, Xiang
Yuan, Lamei
Cao, Yanna
Li, Yunfeiyang
المصدر
العدد
المجلد 2019، العدد 2019 (31 ديسمبر/كانون الأول 2019)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2019-02-19
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
Background/Aims.
Corneal dystrophies (CDs) belong to a group of hereditary heterogeneous corneal diseases which result in visual impairment due to the progressive accumulation of deposits in different corneal layers.
So far, mutations in several genes have been responsible for various CDs.
The purpose of this study is to identify gene mutations in a three-generation Hui-Chinese family associated with granular corneal dystrophy type I (GCD1).
Methods.
A three-generation Hui-Chinese pedigree with GCD1 was recruited for this study.
Slit-lamp biomicroscopy, optical coherence tomography, and confocal microscopy were performed to determine the clinical features of available members.
Whole exome sequencing was performed on two patients to screen for potential disease-causing variants in the family.
Sanger sequencing was used to test the variant in the family members.
Results.
Clinical examinations demonstrated bilaterally abundant multiple grayish-white opacities in the basal epithelial and superficial stroma layers of corneas of the two patients.
Whole exome sequencing revealed that a heterozygous missense mutation (c.1663C > T, p.Arg555Trp) in the transforming growth factor beta-induced gene (TGFBI) was shared by the two patients, and it cosegregated with this disease in the family confirmed by Sanger sequencing.
Conclusions.
The results suggested that the heterozygous TGFBI c.1663C > T (p.Arg555Trp) mutation was responsible for GCD1 in the Hui-Chinese family, which should be of great help in genetic counseling for this family.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Qin, Xiang& Yuan, Lamei& Cao, Yanna& Xu, Hongbo& Li, Yunfeiyang& Deng, Hao. 2019. Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy. Journal of Ophthalmology،Vol. 2019, no. 2019, pp.1-7.
https://search.emarefa.net/detail/BIM-1185313
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Qin, Xiang…[et al.]. Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy. Journal of Ophthalmology No. 2019 (2019), pp.1-7.
https://search.emarefa.net/detail/BIM-1185313
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Qin, Xiang& Yuan, Lamei& Cao, Yanna& Xu, Hongbo& Li, Yunfeiyang& Deng, Hao. Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy. Journal of Ophthalmology. 2019. Vol. 2019, no. 2019, pp.1-7.
https://search.emarefa.net/detail/BIM-1185313
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1185313
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