Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population
المؤلفون المشاركون
Huang, Lvzhen
Hu, Qin-Rui
Gao, Tingting
Tian, Chengqiang
Liu, Zhiming
Zou, Jimei
Zhao, Mingwei
المصدر
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-11، 11ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-10-18
دولة النشر
مصر
عدد الصفحات
11
التخصصات الرئيسية
الملخص EN
Mutations in the gene BEST1 usually cause bestrophinopathies, such as the rare progressive diseases Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB).
This study aimed to investigate the clinical characteristics of patients with BVMD or ARB carrying BEST1 mutations.
A total of 12 probands including 9 patients with a clinical diagnosis of BVMD and 3 patients with a clinical diagnosis of ARB were recruited for genetics analysis.
All patients underwent detailed ophthalmic examination.
All coding exons of the BEST1 gene were screened by PCR-based DNA sequencing.
Programs of PolyPhen-2, SIFT, and MutationTaster were used to analyze the potential pathogenicity of the mutations in BEST1.
In the 9 unrelated patients with BVMD, one heterozygous BEST1 mutation was revealed in 8 patients and two compound heterozygous mutations in 1 patient.
In the 3 unrelated patients with ARB, two compound heterozygous mutations were revealed in 2 patients and three compound heterozygous mutations in 1 patient.
Molecular analyses identified a total of 15 mutations, including 3 novel mutations (c.424A>G p.S142G, c.436G>A p.A146T, and c.155T>C p.L52P).
Antivascular endothelial growth factor (VEGF) drugs were given to two affected eyes, especially those also exhibiting choroidal neovascularization (CNV), and no serious adverse events occurred.
Our study indicates that there is wide genotypic and phenotypic variability in patients with BVMD or ARB in China.
The screening of BEST1 gene is significant for the precise diagnosis of BVMD and ARB.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Gao, Tingting& Tian, Chengqiang& Hu, Qin-Rui& Liu, Zhiming& Zou, Jimei& Huang, Lvzhen…[et al.]. 2018. Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population. BioMed Research International،Vol. 2018, no. 2018, pp.1-11.
https://search.emarefa.net/detail/BIM-1126757
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Gao, Tingting…[et al.]. Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population. BioMed Research International No. 2018 (2018), pp.1-11.
https://search.emarefa.net/detail/BIM-1126757
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Gao, Tingting& Tian, Chengqiang& Hu, Qin-Rui& Liu, Zhiming& Zou, Jimei& Huang, Lvzhen…[et al.]. Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-11.
https://search.emarefa.net/detail/BIM-1126757
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1126757
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