새로운 DNAH5 변이에 의한 신생아의 원발성섬모이상운동증 1예
A novel compound heterozygous mutation in DNAH5 in a Korean neonate with primary ciliary dyskinesia
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초록
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.
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.
참고문헌 (14)
- Lucas JS, "Diagnosis and management of primary ciliary dyskinesia", Arch Dis Child, 99, pp.850~856 (2014)
- Horani A, "Advances in the genetics of primary ciliary dyskinesia: clinical implications", Chest, 154, pp.645~652 (2018)
- Davis SD, "Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype", Am J Respir Crit Care Med, 191, pp.316~324 (2015)
- Takeuchi K, "Recent advances in primary ciliary dyskinesia", Auris Nasus Larynx, 43, pp.229~236 (2016)
- Horani A, "Genetics and biology of primary ciliary dyskinesia", Paediatr Respir Rev, 18, pp.18~24 (2016)
- Raidt J, "Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia", Eur Respir J, 44, pp.1579~1588 (2014)
- Failly M, "Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia", J Med Genet, 46, pp.281~286 (2009)
- Zhang J, "A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family", Eur Arch Otorhinolaryngol, 271, pp.1589~1594 (2014)
- Kano G, "Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia", Mol Med Rep, 14, pp.5077~5083 (2016)
- Hosie PH, "Presentation of primary ciliary dyskinesia in children: 30 years’ experience", J Paediatr Child Health, 51, pp.722~726 (2015)
- Mullowney T, "Primary ciliary dyskinesia and neonatal respiratory distress", Pediatrics, 134, pp.1160~1166 (2014)
- Kennedy MP, "Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia", Circulation, 115, pp.2814~2821 (2007)
- Olbrich H, "Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry", Nat Genet, 30, pp.143~144 (2002)
- Shapiro AJ, "Diagnosis of primary ciliary dyskinesia. an official american thoracic society clinical practice guideline", Am J Respir Crit Care Med, 197, pp.e24~e39 (2018)