CYP1B1 and myocilin gene mutations in Egyptian patients with primary congenital glaucoma
المؤلفون المشاركون
Isa, Nuha M.
Amin, Asma K.
Mursi, Hibah A.
Bayyumi, Nadir H.
al-Shafii, Sahar A.
Fasad, Mahmud R.
Khulayf, Suha F.
المصدر
The Egyptian Journal of Medical Human Genetics
العدد
المجلد 18، العدد 3 (31 يوليو/تموز 2017)، ص ص. 219-224، 6ص.
الناشر
الجمعية المصرية للأمراض الوراثية
تاريخ النشر
2017-07-31
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الملخص EN
Purpose: Primary congenital glaucoma (PCG) accounts for 26–29% of childhood blindness in Egypt.
The identification of disease causing mutations has not been extensively investigated.
We aimed to examine the frequency of CYP1B1 and MYOC mutations in PCG Egyptian patients, and study a possible genotype/phenotype correlation.
Methods: Ninety-eight patients with PCG diagnosed at the Ophthalmology department of Alexandria Main University Hospital were enrolled.
Demographic and phenotypic characteristics were recorded.
Patients and 100 healthy subjects (control group) were screened for two mutations in CYP1B1 gene (G61E, R368H) and one mutation in MYOC gene (Gln48His) using polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP).
Phenotypic characteristics pertaining to disease severity were compared.
Results: Nineteen patients (19%) with PCG were found positive for one or more of the mutations screened for.
Seven patients (7%) were homozygous for the G61E mutation.
Ten patients (10%) were heterozygous; 6 for the G61E mutation, 2 for the R368H mutation and 2 for the Gln48His mutation.
Two patients (2%) were double heterozygotes harboring a R368H as well as a Gln48His mutation.
The most common mutation observed was the G61E in 13 patients; 7 homozygotes and 6 heterozygotes for the mutation.
The control group were negative for all mutations screened for.
No significant correlations between the mutations and phenotype severity were detected.
A statistically significant positive correlation however was found between the different mutations and each of the IOP and the cup/disk ratio.
Conclusion: The current study further endorses the role of CYP1B1 mutations in the etiology of PCG among Egyptian patients and is the first study to report MYOC gene mutation in Egyptian patients with PCG.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Amin, Asma K.& Mursi, Hibah A.& Isa, Nuha M.& Bayyumi, Nadir H.& al-Shafii, Sahar A.& Khulayf, Suha F.…[et al.]. 2017. CYP1B1 and myocilin gene mutations in Egyptian patients with primary congenital glaucoma. The Egyptian Journal of Medical Human Genetics،Vol. 18, no. 3, pp.219-224.
https://search.emarefa.net/detail/BIM-760004
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Amin, Asma K.…[et al.]. CYP1B1 and myocilin gene mutations in Egyptian patients with primary congenital glaucoma. The Egyptian Journal of Medical Human Genetics Vol. 18, no. 3 (Jul. 2017), pp.219-224.
https://search.emarefa.net/detail/BIM-760004
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Amin, Asma K.& Mursi, Hibah A.& Isa, Nuha M.& Bayyumi, Nadir H.& al-Shafii, Sahar A.& Khulayf, Suha F.…[et al.]. CYP1B1 and myocilin gene mutations in Egyptian patients with primary congenital glaucoma. The Egyptian Journal of Medical Human Genetics. 2017. Vol. 18, no. 3, pp.219-224.
https://search.emarefa.net/detail/BIM-760004
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 223-224
رقم السجل
BIM-760004
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