Variants in CEP135 Cause Congenital Microcephaly and Primary Ciliary Dyskinesia.
Abigail Bergman-Sieger, Marc-André Turcot, Lawrence E Ostrowski et al.
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Case in brief
Three children from two families presented with congenital microcephaly and chronic respiratory issues consistent with primary ciliary dyskinesia (PCD). Diagnostic testing revealed autosomal recessive variants in CEP135. All cases exhibited chronic respiratory symptoms and bronchiectasis, with one case showing pathogenic variants. Ciliary ultrastructure analysis revealed abnormal ciliary beat patterns and bulbous-tip structures, linking CEP135 variants to PCD and microcephaly.
What made this case unusual
This case report highlights congenital microcephaly as a previously unrecognized association with primary ciliary dyskinesia, linked to variants in the CEP135 gene.
Diagnostic / clinical pearl
Clinicians should consider genetic testing for CEP135 variants in pediatric patients presenting with congenital microcephaly and respiratory symptoms suggestive of primary ciliary dyskinesia.
Why it matters
Understanding the genetic basis of overlapping ciliopathies can aid in accurate diagnosis and management of patients with complex presentations involving both motile and non-motile ciliary dysfunction.