A novel compound heterozygous mutation in DNAH5 in a Korean neonate with primary ciliary dyskinesia
| Autor: | Na-Won Lee, Ji Eun Jeong, Yoon Young Jang, Hai Lee Chung |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Sanger sequencing
business.industry Nonsense mutation General Medicine medicine.disease Compound heterozygosity Frameshift mutation 03 medical and health sciences Situs inversus symbols.namesake 0302 clinical medicine 030228 respiratory system 030225 pediatrics Mutation (genetic algorithm) Immunology otorhinolaryngologic diseases medicine symbols Motile cilium business Primary ciliary dyskinesia |
| Zdroj: | Allergy, Asthma & Respiratory Disease. 7:165 |
| ISSN: | 2288-0410 2288-0402 |
| DOI: | 10.4168/aard.2019.7.3.165 |
| Popis: | 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 de scribing DNAH5 mutations in a Korean patient with PCD. (Allergy Asthma Respir Dis 2019;7:165-169) |
| Databáze: | OpenAIRE |
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