새로운 DNAH5 변이에 의한 신생아의 원발성섬모이상운동증 1예 (A novel compound heterozygous mutation in DNAH5 in a Korean neonate with primary ciliary dyskinesia)

서지정보

· 발행기관 : 대한 소아알레르기 호흡기학회
· 수록지 정보 : Allergy Asthma & Respiratory Disease / 7권 / 3호 / 165 ~ 169페이지
· 저자명 : 이나원, 정지은, 장윤영, 정혜리

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.

영어초록

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.

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