Cytochrome P450 Family 1 B1 Gene Mutations in Primary Congenital Glaucoma Affected Egyptian Patients

Aims: Primary congenital glaucoma (PCG) is a leading cause of childhood blindness. The cytochrome P450 family 1, subfamily B, polypeptide 1 (CYP1B1) is the most mutated gene that is associated with PCG. Very few studies have examined the promoter region and exon1 of the CYP1B1 gene. This work was planned to contribute to the description of the possible causative mutations of CYP1B1 gene that are related to PCG affected Egyptian patients. Patients and Methods: Patients diagnosed as glaucomatous based on their symptoms and detailed ophthalmological examinations at the time of presentation underwent an intraocular pressure lowering surgical procedure. Investigations were further proceeded on the molecular level. Sequencing-based mutation screen for the promoter region, exon1 and the coding region of exon3 of CYP1B1 gene have been performed in two related consanguineous PCG affected families and four other sporadic Egyptian patients using the polymerase chain reaction (PCR) assay; where PCR products were sequenced, and further analyzed. Results: Sequencing analysis revealed three novel mutations in PCG affected patients one in the promoter region (g.G2872A) and two in exon1 (g.C3268T and g.C3332T). Two additional mutations in exon3 (p.L432V and p.N453S) reported for the first time in PCG affected Egyptian patients. Clinical and genetic data of the two consanguineous families revealed that although the four parents have the same variations as their sons, they are ophthalmologically free. Conclusion: Regular ophthalmic examinations of siblings and parents of these affected patients should take place for early detection of any form of glaucoma to allow prompt diagnosis and early treatment when needed. Clinical examination and molecular genetic data could contribute to early diagnosis and prevention of the visual impairment caused by PCG. This study provides groundwork for expanded genetic investigations in Egypt paving the way for genetic counseling to help affected families make informed medical and personal decisions.

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Study on Cytochrome P450 Family 1 B1 Gene Mutations in Primary Congenital Glaucoma Affected Egyptian Patients

Highlights on Medicine and Medical Research Vol. 1 ◽

10.9734/bpi/hmmr/v1/2199e ◽

2021 ◽

pp. 62-75

Author(s):

Amanne Feisal Esmael ◽

Hanaa Abdel-Sadek Oraby ◽

Soheir Mohamed El Nahas

Keyword(s):

Cytochrome P450 ◽

Gene Mutations ◽

Congenital Glaucoma ◽

Primary Congenital Glaucoma ◽

Egyptian Patients ◽

B1 Gene ◽

Cytochrome P450 Family

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A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco

Clinical Genetics ◽

10.1034/j.1399-0004.2002.620415.x ◽

2002 ◽

Vol 62 (4) ◽

pp. 334-339 ◽

Cited By ~ 34

Author(s):

A Belmouden ◽

R Melki ◽

M Hamdani ◽

K Zaghloul ◽

A Amraoui ◽

...

Keyword(s):

Cytochrome P450 ◽

Founder Mutation ◽

Congenital Glaucoma ◽

Primary Congenital Glaucoma ◽

Cytochrome P450 1B1 ◽

Cyp1b1 Gene

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CYP1B1 Gene Mutation Impact on Prognosis of Primary Congenital Glaucoma

QJM ◽

10.1093/qjmed/hcab109.026 ◽

2021 ◽

Vol 114 (Supplement_1) ◽

Author(s):

Noha S Mohammad ◽

Saad M Rashad ◽

Tarek A el Maamoun ◽

Osama K Zaki ◽

Thanaa H Mohamed ◽

...

Keyword(s):

Surgical Outcome ◽

Gene Mutations ◽

Congenital Glaucoma ◽

Primary Congenital Glaucoma ◽

Cyp1b1 Gene ◽

Key Factor ◽

Mutation Impact ◽

Surgical Failure ◽

Cytochrome P450 Family

Abstract Background Primary congenital glaucoma (PCG) is a leading cause of childhood blindness in Egypt. The discovery of the underlying genetic causes has led to far greater understanding of disease mechanisms. Cytochrome P450, family 1, subfamily B, polypeptide 1(CYP1B1) gene mutations usually inherited in an autosomal recessive manner are one of the major etiologies behind PCG. Gene screening aids early diagnosis of PCG which is a key factor in managing and preventing blindness from the disease. Aim This study aims to screen for CYP1B1gene mutations in PCG patients and study its possible impact on surgical outcome of PCG. Methods Twenty-four PCG patients enrolled in this study underwent trabeculotomy, and were followed up at a 3 month interval for a year. Patients’ demographic details were recorded, and their genomic DNA was screened for CYP1B1 mutations. Genotypic impact on surgical outcome was compared between the group of patients who harbored mutations and the group unsolved with mutations. Results Six different disease causing CYP1B1 mutations were identified in 13 (54.17 %) of affected patients who exhibited more surgical failure at the last follow up visit. Conclusion This study further endorses CYP1B1 mutations as a possible etiological and prognostic factor for PCG.

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