A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma

Elkhouly, Asmaa E.; Amer, Mahmoud A.; Ismail, Somaia; Issa, Mahmoud Y.; Hamed, Khaled; Abdel-Hamid, Mohamed S.; Baiomy, Ahmed A.

doi:10.21608/MXE.2023.287526

A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma

Document Type : Original Article

Authors

¹ Department of Medical Molecular Genetics, Human Genetics and Genomic Research Institute, National Research Centre, Egypt.

² Zoology Department, Faculty of Science, Cairo University, Egypt.

³ Department of Clinical Genetics, Human Genetics and Genomic Research Institute, National Research Centre, Egypt.

10.21608/MXE.2023.287526

Abstract

Background: Primary Congenital Glaucoma (PCG) is a critical disease that can lead to blindness if left untreated. It is considered the most common type among pediatric glaucoma cases. Mutations in CYP1B1 gene are the predominant cause for the disease in most cases especially in the Middle East and North Africa regions where high consanguinity rates are reported. Purpose: Reporting a new PCG case from Egypt harboring a novel variant in CYP1B1. Patients and Methods: The patient underwent a full clinical examination, reporting visible symptoms, and measuring both eyes’ IOP and corneal diameter. Genetic testing of CYP1B1 was performed using Sanger sequencing. Results: The patient was found to carry compound heterozygous missense variants: c.1310C>G (p.P437R) and c.1320T>G (p.F440L). Of them, the c.1310C>G (p.P437R) was not reported before. Conclusions: We detected a new variant in CYP1B1 expanding the mutational spectrum of this rare disorder. Further, identifying an additional case with biallelic CYP1B1 variants strongly supports the critical role this gene possesses to PCG phenotype.

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