Allergy Asthma Respir Dis.  2019 Jul;7(3):165-169. 10.4168/aard.2019.7.3.165.

A novel compound heterozygous mutation in DNAH5 in a Korean neonate with primary ciliary dyskinesia

Affiliations
  • 1Department of Pediatrics, School of Medicine, Daegu Catholic University Medical Center, Daegu, Korea. hlchung@cu.ac.kr

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.

Keyword

Primary cliary dyskinesia; DNAH5; Mutation

MeSH Terms

Cilia
Fathers
Female
Humans
Infant, Newborn*
Kartagener Syndrome*
Mothers
Parturition
Situs Inversus
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