Open Access

Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia

  • Authors:
    • Gen Kano
    • Hisashi Tsujii
    • Kazuhiko Takeuchi
    • Kaname Nakatani
    • Makoto Ikejiri
    • Satoru Ogawa
    • Hisami Kubo
    • Mizuho Nagao
    • Takao Fujisawa
  • View Affiliations

  • Published online on: October 21, 2016     https://doi.org/10.3892/mmr.2016.5871
  • Pages: 5077-5083
  • Copyright: © Kano et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by structural and/or functional impairment of cilia throughout the whole body. Early diagnosis of PCD is important for the prevention of long‑term sequelae, however early diagnosis is a challenge due to the phenotypic heterogeneity of PCD. In the current study, the patient with PCD was diagnosed at nine years old following several efforts to control intractable airway symptoms. The patient experienced a chronic productive cough beginning in early childhood and had multiple episodes of pneumonia and otitis media with effusion and sinusitis. No situs inversus or other heterotaxias were reported. Serial chest X‑rays exhibited persistent atelectasis and bronchiectasis in the right middle lobe. When the patient was nine years old, electron microscopy of his cilia and genetic analysis were conducted. Electron microscopy of a biopsy specimen from the nasal mucosa indicated loss of the outer dynein arms. Whole‑exome analysis of the genome demonstrated the presence of compound heterozygous mutations in DNAH5: NM_001369.2:c.5983C>T, p.Arg1995X in exon 36 and NM_001369.2:c.9101delG, p.Gly3034ValfsX22 in exon 54; neither of which have been previously reported in the literature in a Japanese patient. Notably, this case is, to the best of our knowledge, the first reported case of PCD caused by the DNAH5 mutation in a Japanese patient.
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December-2016
Volume 14 Issue 6

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Spandidos Publications style
Kano G, Tsujii H, Takeuchi K, Nakatani K, Ikejiri M, Ogawa S, Kubo H, Nagao M and Fujisawa T: Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia. Mol Med Rep 14: 5077-5083, 2016.
APA
Kano, G., Tsujii, H., Takeuchi, K., Nakatani, K., Ikejiri, M., Ogawa, S. ... Fujisawa, T. (2016). Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia. Molecular Medicine Reports, 14, 5077-5083. https://doi.org/10.3892/mmr.2016.5871
MLA
Kano, G., Tsujii, H., Takeuchi, K., Nakatani, K., Ikejiri, M., Ogawa, S., Kubo, H., Nagao, M., Fujisawa, T."Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia". Molecular Medicine Reports 14.6 (2016): 5077-5083.
Chicago
Kano, G., Tsujii, H., Takeuchi, K., Nakatani, K., Ikejiri, M., Ogawa, S., Kubo, H., Nagao, M., Fujisawa, T."Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia". Molecular Medicine Reports 14, no. 6 (2016): 5077-5083. https://doi.org/10.3892/mmr.2016.5871