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Diagnosis

Primary Ciliary Dyskinesia with Outer Dynein Arm Defect

EM findings

Additional Confirmatory Testing

• Mutation analysis:
  • Homozygous mutations in the DNAH5 gene
    • c.349G>T; p.Glu117* (pathogenic)

Discussion

• DNAH5:
  • Located in 5p15
  • Encodes a component of outer dynein arm (ODA)
  • More than 80 mutations
  • Mutations result in an absent or shortened ODAs
• Autosomal recessive inheritance pattern

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