ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance
المؤلفون المشاركون
Hayashi, Takaaki
Katagiri, Satoshi
Nakano, Tadashi
Urashima, Mitsuyoshi
Negishi, Yuya
Mizobuchi, Kei
المصدر
العدد
المجلد 2017، العدد 2017 (31 ديسمبر/كانون الأول 2017)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2017-08-20
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
Purpose.
To report the spectrum of ABCC6 variants in Japanese patients with angioid streaks (AS).
Patients and Methods.
This was a single-center cohort study.
The medical records of 20 patients with AS from 18 unrelated Japanese families were retrospectively reviewed.
Screening of the ABCC6 gene (exons 1 to 31) was performed using PCR-based Sanger sequencing.
Results.
Eight ABCC6 variants were identified as candidate disease-causing variants.
These eight variants included five known variants (p.Q378X, p.R419Q, p.V848CfsX83, p.R1114C, and p.R1357W), one previously reported variant (p.N428S) of unknown significance, and two novel variants (c.1939C>T [p.H647Y] and c.3374C>T [p.S1125F]); the three latter variants were determined to be variants of significance.
The following four variants were frequently identified: p.V848CfsX83 (14/40 alleles, 35.0%), p.Q378X (7/40 alleles, 17.5%), p.R1357W (6/40 alleles, 15.0%), and p.R419Q (4/40 alleles, 10.0%).
The ABCC6 variants were identified in compound heterozygous or homozygous states in 13 of 18 probands.
Two families showed a pseudodominant inheritance pattern.
Pseudoxanthoma elasticum was seen in 15 of 17 patients (88.2%) who underwent dermatological examination.
Conclusions.
We identified disease-causing ABCC6 variants that were in homozygous or compound heterozygous states in 13 of 18 families (72.2%).
Our results indicated that ABCC6 variants play a significant role in patients with AS in the Japanese population.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Katagiri, Satoshi& Negishi, Yuya& Mizobuchi, Kei& Urashima, Mitsuyoshi& Nakano, Tadashi& Hayashi, Takaaki. 2017. ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance. Journal of Ophthalmology،Vol. 2017, no. 2017, pp.1-7.
https://search.emarefa.net/detail/BIM-1184469
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Katagiri, Satoshi…[et al.]. ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance. Journal of Ophthalmology No. 2017 (2017), pp.1-7.
https://search.emarefa.net/detail/BIM-1184469
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Katagiri, Satoshi& Negishi, Yuya& Mizobuchi, Kei& Urashima, Mitsuyoshi& Nakano, Tadashi& Hayashi, Takaaki. ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance. Journal of Ophthalmology. 2017. Vol. 2017, no. 2017, pp.1-7.
https://search.emarefa.net/detail/BIM-1184469
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1184469
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