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Mutational analysis of CYP1B1 gene in patients with primary congenital glaucoma / by Asmaa El-Sayed Mohamed El-Khouly ; supervisor committee Prof. Dr. Mahmoud Ahmed Amer, Prof. Dr. Ahmed Abdel Aziz Baiomy.

By: Contributor(s): Material type: TextTextLanguage: English Summary language: English, Arabic Producer: 2022Description: 113 pages : illustrations ; 25 cm. + CDContent type:
  • text
Media type:
  • Unmediated
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  • volume
Other title:
  • تحليل الطفرات لجين CYP1B1 فى المرضى المصابيين بمرض الجلوكوما الخلقى الاولى [Added title page title]
Subject(s): DDC classification:
  • 617.741 21
Online resources: Available additional physical forms:
  • Issues also as CD.
Dissertation note: Thesis (M.Sc.)-Cairo University, 2022. Summary: Primary Congenital Glaucoma (PCG) is a crucial disease that can lead to blindness if left untreated. It is considered to be the most common type amongst pediatric glaucoma cases and it is inherited in an autosomal recessive manner. Mutations in CYP1B1 gene are the predominant cause for the disease phenotype in most cases especially in the Middle East region where a high consanguinity rate occurs, as well as in closed populations. CYP1B1 gene was selected to be studied due to its high frequency amongst PCG patients. Purpose: Detecting mutational frequency of CYP1B1 gene in Egyptian PCG patients. Materials and Methods: The study included 28 patients from 24 unrelated families, patients were subjected to full clinical examination including IOP measurement and examining the ONH after obtaining the informed consent from the patients’ parents or guardians. Direct Sanger sequencing was performed on the whole coding region and its flanking intronic sequence of the CYP1B1 gene. Results: 11 mutations were detected in 13 unrelated families, of them; two novel variants were detected; p.A78E and p.P437R. CYP1B1 gene mutations contributed to 54% of this cohort’s patients. Conclusions: Detected mutational frequency in our cohort is consistent with previous studies. This high rate of mutation detected is as well consistent with the consanguinity rate present in Egypt. Further studies are recommended to investigate other causative genes in cases negative to mutations in CYP1B1 gene to further understand the disease’s mechanisms, and to pave the way to new treatments and managemental strategies.Summary: يعد مرض الجلوكوما أحد أقدم األمراض فقدأطلق عليه أبو قراط لفظ جلوكوزيز المشتق من اللفظ جالكوزو الذي يعني المسحة الزرقاء.يتسبب المرض في اتلاف العصب البصري نتيجة ارتفاع ضغط العين بسبب حدوث خلل في الشبكة التربيقية في الغرفة الامامية للعين.يعد مرض الجلوكوما الخلقي الاولى أكثر أنواع الجلوكوما المنتشرة بين األطفال.تتضمن أعراض المرض ارتفاع ضغط العين، زيادة حجم كرة العين،استسقاء و زيادة قطر القرنية، واعتلال العصب البصري.تورث معظم حالات مرض الجلوكوما الخلقي الاولي بطريقةمتنحية،مما يساهم في زيادة معدل انتشاره في مجتمعات الشرق الاوسط نتيجة ارتفاع معدل زواج الاقارب،حيث يصل معدل الاصابة به إلى حالة لكل3,030 شخص في المملكة العربية السعودية،بينما تصل إلي حالة لكل18,500-30,000شخص في المجتمعات الغربية.يساهم في حدوث المرض طفرات في أكثرمن جين
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Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.12.21.M.Sc.2022.As.M (Browse shelf(Opens below)) Not for loan 01010110087694000

Thesis (M.Sc.)-Cairo University, 2022.

Bibliography: pages 85-111.

Primary Congenital Glaucoma (PCG) is a crucial disease that can lead to blindness if left untreated. It is considered to be the most common type amongst pediatric glaucoma cases and it is inherited in an autosomal recessive manner. Mutations in CYP1B1 gene are the predominant cause for the disease phenotype in most cases especially in the Middle East region where a high consanguinity rate occurs, as well as in closed populations. CYP1B1 gene was selected to be studied due to its high frequency amongst PCG patients. Purpose: Detecting mutational frequency of CYP1B1 gene in Egyptian PCG patients. Materials and Methods: The study included 28 patients from 24 unrelated families, patients were subjected to full clinical examination including IOP measurement and
examining the ONH after obtaining the informed consent from the patients’ parents or guardians. Direct Sanger sequencing was performed on the whole coding region and its flanking intronic sequence of the CYP1B1 gene. Results: 11 mutations were detected in 13 unrelated families, of them; two novel variants
were detected; p.A78E and p.P437R. CYP1B1 gene mutations contributed to 54% of this cohort’s patients. Conclusions: Detected mutational frequency in our cohort is consistent with previous studies. This high rate of mutation detected is as well consistent with the consanguinity rate present in Egypt. Further studies are recommended to investigate other causative genes in cases negative to mutations in CYP1B1 gene to further understand the disease’s mechanisms, and to pave the way to new treatments and managemental strategies.

يعد مرض الجلوكوما أحد أقدم األمراض فقدأطلق عليه أبو قراط لفظ جلوكوزيز المشتق من اللفظ جالكوزو الذي يعني المسحة الزرقاء.يتسبب المرض في اتلاف العصب البصري نتيجة ارتفاع ضغط العين بسبب حدوث خلل في الشبكة التربيقية في الغرفة الامامية للعين.يعد مرض الجلوكوما الخلقي الاولى أكثر أنواع الجلوكوما المنتشرة بين األطفال.تتضمن أعراض المرض ارتفاع ضغط العين، زيادة حجم كرة العين،استسقاء و زيادة قطر القرنية، واعتلال العصب البصري.تورث معظم حالات مرض الجلوكوما الخلقي الاولي بطريقةمتنحية،مما يساهم في زيادة معدل انتشاره في مجتمعات الشرق الاوسط نتيجة ارتفاع معدل زواج الاقارب،حيث يصل معدل الاصابة به إلى حالة لكل3,030 شخص في المملكة العربية السعودية،بينما تصل إلي حالة لكل18,500-30,000شخص في المجتمعات الغربية.يساهم في حدوث المرض طفرات في أكثرمن جين

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