LRRC56 deficiency cause motile ciliopathies in humans and mice.

ABSTRACT:

Introduction

Motile ciliopathies represent a group of disorders caused by impaired motility of cilia and flagella, resulting in clinical manifestations such as laterality defects, asthenospermia, chronic respiratory infections, and hydrocephalus. Although nearly 53 genes have been implicated, the genetic etiology remains unresolved in approximately 30% of cases, and the regulatory mechanisms of motile ciliogenesis are still incompletely understood.

Methods

Whole-exome sequencing was employed in a patient with laterality defects and recurrent pulmonary infections. Nasal epithelial brushings underwent high-speed video microscopy (HSVM) to evaluate ciliary beat pattern, and conventional transmission electron microscopy (TEM) to assess ultrastructure. CRISPR/Cas9 technology was

SUBMITTER: Xie XH 

PROVIDER: S-EPMC12753093 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature