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Na-Won Lee, Ji Eun Jeong, Yoon Young Jang, Hai Lee Chung
Abstract
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease affecting motile cilia. A female neonate was hospitalized with respiratory distress 72 hours after birth and showed concurrent situs inversus. She was identified to have compound heterozygous mutations in DNAH5: c.5647C>T, p.Arg1883Ter (nonsense mutation) and c.10810dupA, p.Ile3604AsnfsTer2 (frameshift mutation). Sanger sequencing confirmed that they were inherited from her father and mother, respectively, and she was diagnosed with PCD. The c.10810dupA is a novel DNAH5 mutation that has never been reported. To the best of our knowledge, this is the first report describing DNAH5 mutations in a Korean patient with PCD.
Figures and Tables
 | Fig. 2(A, B) High resolution computed tomography scan shows diffuse low attenuation in right upper lobe without pneumonic infiltration. (C) Chest X-ray taken the same day.
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 | Fig. 3Genetic analysis revealed a heterozygous mutation in DNAH5: NM 001369.2:c.5647C>T, p.Arg1883Ter and NM 001369.2:c.10810dupA, p.Ile3604AsnfsTer2. Sanger sequencing confirmed that the patient's unaffected father carried NM 001369.2:c.5647C>T variant (nonsense mutation) (A) and the patient's unaffected mother carried NM 001369.2:c.10810dupA variant (frameshift mutation) that is a novel mutation in DNAH5 (B).
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