Whole-exome sequencing analysis in a case of primary congenital glaucoma due to the partial uniparental isodisomy.

ABSTRACT: We described a clinical, laboratory, and genetic presentation of a pathogenic variant of the CYP1B1 gene through a report of a case of primary congenital glaucoma and a trio analysis of this candidate variant in the family with the sanger sequencing method and eventually completed our study with the secondary/incidental findings. This study reports a rare case of primary congenital glaucoma, an 8-year-old female child with a negative family history of glaucoma and uncontrolled intraocular pressure. This case's whole-exome sequencing data analysis presents a homozygous pathogenic single nucleotide variant in the CYP1B1 gene (NM 000104:exon3:c.G1103A:p.R368H). At the same time, this pathogenic variant was obtained as a heterozygous state in her unaffected father but not her mother. The diagn

SUBMITTER: Zavarzadeh PG 

PROVIDER: S-EPMC9576475 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature