Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma

Raeesa Tehreem; Anam Arooj; Sorath Noorani Siddiqui; Shagufta Naz; Kiran Afshan; Sabika Firasat

doi:10.1371/journal.pone.0274335

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Open Access

Peer-reviewed

Research Article

Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma

Raeesa Tehreem,

Roles Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing

Affiliation Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
⨯
Anam Arooj,

Roles Data curation, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – review & editing

Affiliation Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
⨯
Sorath Noorani Siddiqui,

Roles Data curation, Investigation, Visualization, Writing – review & editing

Affiliation Department of Pediatric Ophthalmology and Strabismus, Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan
⨯
Shagufta Naz,

Roles Conceptualization, Formal analysis, Validation, Writing – review & editing

Affiliation Department of Zoology, Lahore College for Women University, Lahore, Pakistan
⨯
Kiran Afshan,

Roles Conceptualization, Methodology, Resources, Writing – review & editing

Affiliation Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
⨯
Sabika Firasat

Roles Conceptualization, Formal analysis, Funding acquisition, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

* E-mail: sabika.firasat@qau.edu.pk

Affiliation Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan

https://orcid.org/0000-0003-4959-7832

⨯

Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma

Raeesa Tehreem,
Anam Arooj,
Sorath Noorani Siddiqui,
Shagufta Naz,
Kiran Afshan,
Sabika Firasat

Published: September 9, 2022
https://doi.org/10.1371/journal.pone.0274335

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Homozygosity
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Protein structure
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Protein structure prediction
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Computer software
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Glaucoma
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Human families
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Single nucleotide polymorphisms
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