A zebrafish model of <i>crim1</i> loss of function has small and misshapen lenses with dysregulated <i>clic4</i> and <i>fgf1b</i> expression.

ABSTRACT:

Introduction

Heterozygous deletions predicting haploinsufficiency for the Cysteine Rich Motor Neuron 1 (CRIM1) gene have been identified in two families with macrophthalmia, colobomatous, with microcornea (MACOM), an autosomal dominant trait. Crim1 encodes a type I transmembrane protein that is expressed at the cell membrane of lens epithelial and fiber cells at the stage of lens pit formation. Decreased Crim1 expression in the mouse reduced the number of lens epithelial cells and caused defective adhesion between lens epithelial cells and between the epithelial and fiber cells.

Methods

We present three patients with heterozygous deletions and truncating variants predicted to result in haploinsufficiency for CRIM1 as further evidence for the role of this

SUBMITTER: Le T 

PROVIDER: S-EPMC11922885 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature