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KMID : 1035620190070030165
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Allergy Asthma & Respiratory Disease
2019 Volume.7 No. 3 p.165 ~ p.169
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A novel compound heterozygous mutation in DNAH5 in a Korean neonate with primary ciliary dyskinesia
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Lee Na-Won
Jeong Ji-Eun
Jang Yong-Seok
Chung Hai-Lee
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Abstract
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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.
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KEYWORD
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Primary cliary dyskinesia, DNAH5, Mutation
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