A novel compound heterozygous mutation in DNAH5 in a Korean neonate with primary ciliary dyskinesia
Allergy, Asthma & Respiratory Disease
; : 165-169, 2019.
Article
en Ko
| WPRIM
| ID: wpr-762188
Biblioteca responsable:
WPRO
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.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Situs Inversus
/
Síndrome de Kartagener
/
Cilios
/
Parto
/
Padre
/
Madres
Límite:
Female
/
Humans
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Newborn
Idioma:
Ko
Revista:
Allergy, Asthma & Respiratory Disease
Año:
2019
Tipo del documento:
Article