A novel compound heterozygous mutation in DNAH5 in a Korean neonate with primary ciliary dyskinesia
Allergy, Asthma & Respiratory Disease
;
: 165-169, 2019.
Article
in Korean
| WPRIM
| ID: wpr-762188
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Situs Inversus
/
Kartagener Syndrome
/
Cilia
/
Parturition
/
Fathers
/
Mothers
Limits:
Female
/
Humans
/
Infant, Newborn
Language:
Korean
Journal:
Allergy, Asthma & Respiratory Disease
Year:
2019
Type:
Article
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