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287633

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

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Last updated: 29 Dec 2024

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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.

DOI

10.21608/MXE.2023.287526

Keywords

CYP1B1 gene, Egyptian patient, novel variant, Primary congenital glaucoma

Authors

First Name

Asmaa

Last Name

Elkhouly

MiddleName

E.

Affiliation

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

Email

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City

-

Orcid

-

First Name

Mahmoud

Last Name

Amer

MiddleName

A.

Affiliation

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

Email

-

City

-

Orcid

-

First Name

Somaia

Last Name

Ismail

MiddleName

-

Affiliation

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

Email

-

City

-

Orcid

-

First Name

Mahmoud

Last Name

Issa

MiddleName

Y.

Affiliation

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

Email

-

City

-

Orcid

-

First Name

Khaled

Last Name

Hamed

MiddleName

-

Affiliation

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

Email

-

City

-

Orcid

-

First Name

Mohamed

Last Name

Abdel-Hamid

MiddleName

S.

Affiliation

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

Email

-

City

-

Orcid

-

First Name

Ahmed

Last Name

Baiomy

MiddleName

A.

Affiliation

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

Email

aabdelaziz.baiomy@cu.edu.eg

City

-

Orcid

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Volume

11

Article Issue

2

Related Issue

39885

Issue Date

2022-07-01

Receive Date

2023-02-27

Publish Date

2022-07-01

Page Start

54

Page End

57

Print ISSN

2090-8571

Online ISSN

2090-763X

Article File

MXE_Volume 11_Issue 2_Pages 54-57.pdf

PDF . 376.6kB

Link

https://mxe.journals.ekb.eg/article_287633.html

Detail API

https://mxe.journals.ekb.eg/service?article_code=287633

Order

287,633

Type

Original Article

Type Code

2,549

Publication Type

Journal

Publication Title

Middle East Journal of Medical Genetics

Publication Link

https://mxe.journals.ekb.eg/

MainTitle

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

Details

Type

Article

Created At

29 Dec 2024