Clinical and genetic features of primary ciliary dyskinesia in a cohort of consecutive clinically suspect children in western China.

ABSTRACT:

Background

Primary ciliary dyskinesia (PCD) is a rare, inherited disorder of the motile cilia that exhibits genetic and clinical heterogeneity among different populations. PCD diagnosis remains challenging owing to the heterogeneity of associated clinical features and lack of a gold standard diagnostic test.

Objective

The aim of this study was to analyze the clinical and genetic characteristics of a group of children with clinically suspected PCD in one region of China, with the goal of providing a more robust knowledge base regarding the genetic stratification underlying this disease in Chinese populations.

Methods

We retrospectively analyzed the data from 38 patients with clinically suspected PCD who had undergone next-generation sequencing (NGS) between November 20

SUBMITTER: Li Y 

PROVIDER: S-EPMC9264530 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature