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Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations.

International ophthalmology - 1 Oct 2021

Emamalizadeh Babak, Daneshmandpour Yousef, Kazeminasb Somayeh, Aghaei Moghadam Ehsan, Bahmanpour Zahra, Alehabib Elham, Alinaghi Somayeh, Doozandeh Azadeh, Atakhorrami Minoo, Darvish Hossein

Abstract excerpt

PURPOSE: Primary congenital glaucoma (PCG) (OMIM#231,300) can be caused by pathogenic sequence variations in CYP1B1, LTBP2, MYOC and PXDN genes. The purpose of this study was to investigate mutations in the CYP1B1 gene in families affected with primary congenital glaucoma (PCG) using linkage analysis and Sanger sequencing. METHODS: A total number of four families with nine affected PCG patients during six months...

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PMID: 34019190
DOI: 10.1007/s10792-021-01888-w

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