Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility.

ABSTRACT:

Propose

We here present a female case with primary ciliary dyskinesia (PCD) and infertility. In this report, we also present the evaluation of the patient family, including her twin sister, also with PCD and infertility.

Methods

Confirmation of the PCD clinical diagnosis was performed through assessment of cilia motility, by high-speed video microscopy (HSVM), axoneme ultrastructure, by transmission electron microscopy (TEM), and genetic characterization, by whole-exome sequence (WES). Gene expression studies used qPCR for mRNA expression and immunofluorescence to determine cell protein localization.

Results

We identified a homozygous nonsense variant in the DRC1 gene (NM 145038.5:c.352C>T (p.Gln118Ter)) in the female patient with PCD and infertility that fit the mode

SUBMITTER: Pereira R 

PROVIDER: S-EPMC10224902 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature