Case Report: Minigene assays reveal a novel <i>DNAAF6</i> intronic variant as the key etiology for primary ciliary dyskinesia.

ABSTRACT:

Background

Primary ciliary dyskinesia (PCD), a rare hereditary disorder characterized by impaired ciliary motility, is frequently linked to infertility. Elucidating PCD's genetic basis is critical for accurate diagnosis and clinical management. However, research on the pathogenicity of intronic variants in non-classical splice regions of DNAAF6-a newly identified PCD-associated gene in recent years-remains scarce.

Case presentation

A proband with primary ciliary dyskinesia (PCD) and male infertility underwent whole exome sequencing (WES), revealing a novel hemizygous intronic variant in the DNAAF6 gene (NM_173494.2: c.515 + 3_515+6del, Clinvar Variation ID:4075425). Sanger sequencing confirmed this variant in his affected brother. A minigene splicing assay show

SUBMITTER: Long Y 

PROVIDER: S-EPMC12755853 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature