What question did this study set out to answer?

This study aims to investigate the association between CEP135 variants and primary ciliary dyskinesia in an infant.

D27-09 Primary Ciliary Dyskinesia Associated With Compound Heterozygous CEP135 Variants

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Case report shows ciliary dysfunction in an infant with compound heterozygous CEP135 variants, suggesting multisystem involvement.

This study aims to investigate the association between CEP135 variants and primary ciliary dyskinesia in an infant.
Case presentation of an infant with respiratory symptoms and growth issues.
Trio exome sequencing identified compound heterozygous variants in CEP135.
Diagnostic work included imaging, bronchoscopy, and genetic analysis.
The patient exhibited severe microcephaly and recurrent respiratory infections, including pneumonia.
Ciliary biopsy revealed Class II defects with structural abnormalities in cilia.
Reduced nasal nitric oxide levels and chronic bronchiectasis were observed.

Bergman-Sieger et al. (2026) studied this question.

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