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

• Lee NW
• Jeong JE
• Jang YY
• Chung HL

• KMID: 2461410
• DOI: http://doi.org/10.4168/aard.2019.7.3.165

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

Figure

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  Fig. 1 Chest X-ray on admission (the third day of birth) shows dextrocardia and hyperinflated lungs.

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  Fig. 2 (A, B) High resolution computed tomography scan shows diffuse low attenuation in right upper lobe without pneumonic infiltration. (C) Chest X-ray taken the same day.

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  Fig. 3 Genetic analysis revealed a heterozygous mutation in DNAH5: NM 001369.2:c.5647C>T, p.Arg1883Ter and NM 001369.2:c.10810dupA, p.Ile3604AsnfsTer2. Sanger sequencing confirmed that the patient's unaffected father carried NM 001369.2:c.5647C>T variant (nonsense mutation) (A) and the patient's unaffected mother carried NM 001369.2:c.10810dupA variant (frameshift mutation) that is a novel mutation in DNAH5 (B).

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