What type of study is this?

This is a Observational study (also classified as: Whole Exome Sequencing, Sanger Sequencing).

September 10, 2025

Clinical and genetic analysis of a child with Primary ciliary dyskinesia variants and co-existence of CCDC39 gene variants and 22q11.21 deletion.

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Analysis reveals complex phenotypes with CCDC39 gene variants and 22q11.21 deletion in a child, suggesting new diagnostic pathways.

The presence of CCDC39 genetic variants and a 22q11.21 deletion contributes to complex clinical features.
Whole-exome sequencing and Sanger sequencing were pivotal in identifying variants in the child and her parents.
The child exhibited severe pneumonia and other anomalies, highlighting the impact of genetic factors on her health.
This genetic characterization enhances understanding of primary ciliary dyskinesia and its associated complications.

Chang et al. (2025) studied this question.

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