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Diagnosis

Primary Ciliary Dyskinesia with Inner Dynein Arm Defect and axonemal disorganization

EM findings

Additional Confirmatory Testing

• Mutation analysis: CCDC39 compound heterozygous mutations
  • c.1228C>T, p.Gln410Ter (pathogenic)
  • c.2017G>T, p.Glu673Ter (pathogenic)

Discussion

• CCDC39 and CCDC40 interact with the nexin-dynein regulatory complexes and are involved in the IDA attachment.
• CCDC39 and CCDC40 mutations are the major cause of IDA defects and axonemal disorganization
  • Approximately 12% of patients with PCD show this ultrastructure
• Autosomal recessive inheritance pattern

Go to PCD page

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