Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.

ABSTRACT:

Purpose

To explore the frequency and positions of genetic mutations in CYP1B1 and FOXC1 in a Japanese population.

Study design

Molecular genetic analysis.

Methods

Genomic DNA was extracted from 31 Japanese patients with childhood glaucoma (CG) from 29 families. We examined the CYP1B, FOXC1, and MYOC genes using Sanger sequencing and whole-exome sequencing (WES).

Results

For CYP1B1, we identified 9 families that harbored novel mutations, p.A202T, p.D274E, p.Q340*, and p.V420G; the remaining mutations had been previously reported. When mapped to the CYP1B1 protein structure, all mutations appeared to influence the enzymatic activity of CYP1B1 by provoking structural deformity. Five patients were homozygotes or compound heterozygotes, supporting the recessive inhe

SUBMITTER: Fuse N 

PROVIDER: S-EPMC11607050 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature