A novel compound heterozygous mutation in DNAH5 in a Korean neonate with primary ciliary dyskinesia
10.4168/aard.2019.7.3.165
- Author:
Na Won LEE
1
;
Ji Eun JEONG
;
Yoon Young JANG
;
Hai Lee CHUNG
Author Information
1. Department of Pediatrics, School of Medicine, Daegu Catholic University Medical Center, Daegu, Korea. hlchung@cu.ac.kr
- Publication Type:Case Report
- Keywords:
Primary cliary dyskinesia;
DNAH5;
Mutation
- MeSH:
Cilia;
Fathers;
Female;
Humans;
Infant, Newborn;
Kartagener Syndrome;
Mothers;
Parturition;
Situs Inversus
- From:Allergy, Asthma & Respiratory Disease
2019;7(3):165-169
- CountryRepublic of Korea
- Language:Korean
-
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.
