title: Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia.
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.
authors: Department of Pediatrics, Kyoto‑Yamashiro General Medical Center, Kizugawashi, Kyoto 619‑0214, Japan.
authors: Gen
authors: G
authors: Kano
authors: Department of Pediatrics, Kyoto‑Yamashiro General Medical Center, Kizugawashi, Kyoto 619‑0214, Japan.
authors: Hisashi
authors: H
authors: Tsujii
authors: Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Tsu, Mie 514‑8507, Japan.
authors: Kazuhiko
authors: K
authors: Takeuchi
authors: Division of Personalized Medicine, Mie University Graduate School of Medicine, Tsu, Mie 514‑8507, Japan.
authors: Kaname
authors: K
authors: Nakatani
authors: Central Clinical Laboratories, Mie University Graduate School of Medicine, Tsu, Mie 514‑8507, Japan.
authors: Makoto
authors: M
authors: Ikejiri
authors: Electron Microscopy Research Center, Mie University Graduate School of Medicine, Tsu, Mie 514‑8507, Japan.
authors: Satoru
authors: S
authors: Ogawa
authors: School of Medicine, Mie University, Tsu, Mie 514‑8507, Japan.
authors: Hisami
authors: H
authors: Kubo
authors: Department of Pediatrics, Mie National Hospital, Tsu, Mie 514‑0125, Japan.
authors: Mizuho
authors: M
authors: Nagao
authors: Department of Pediatrics, Mie National Hospital, Tsu, Mie 514‑0125, Japan.
authors: Takao
authors: T
authors: Fujisawa
mesh_terms: D056444:Axonemal Dyneins / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D059472:Exome; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007619:Kartagener Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D013902:Radiography, Thoracic; D014057:Tomography, X-Ray Computed
chemical_list: D056444:Axonemal Dyneins; C497507:DNAH5 protein, human