Neonatal Medicine

The Korean Society of Neonatology (대한신생아학회)
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Noonan Syndrome Confirmed to KRAS Gene Mutation: A Case of KRAS Gene Mutation

KRAS 유전자 변이로 확진된 Noonan 증후군 신생아 1례

  • Kim, Sung-Woo (Department of Pediatrics, CHA Gangnam Medical Center, CHA University) ;
  • Park, So-Eun (Department of Pediatrics, CHA Gangnam Medical Center, CHA University) ;
  • Jeong, In-Hyuk (Department of Pediatrics, CHA Gangnam Medical Center, CHA University) ;
  • Yoon, Jeong-Won (Department of Pediatrics, CHA Gangnam Medical Center, CHA University) ;
  • Lee, Cho-Ae (Department of Pediatrics, CHA Gangnam Medical Center, CHA University) ;
  • Jeon, Ji-Hyun (Department of Pediatrics, CHA Gangnam Medical Center, CHA University)
  • 김성우 (차의과학대학교 강남차병원 소아청소년과) ;
  • 박소은 (차의과학대학교 강남차병원 소아청소년과) ;
  • 정인혁 (차의과학대학교 강남차병원 소아청소년과) ;
  • 윤정원 (차의과학대학교 강남차병원 소아청소년과) ;
  • 이초애 (차의과학대학교 강남차병원 소아청소년과) ;
  • 전지현 (차의과학대학교 강남차병원 소아청소년과)
  • Published : 2011.11.30
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Abstract

Noonan syndrome is an autosomal dominant disorder characterized by typical facial features, congenital heart disease, and short stature. Diagnosis is difficult only with clinical symptoms and it is recently confirmed with gene study. The genotype-phenotype correlations have been reported. We report a newborn with KRAS gene mutation. This is the second report of case with KRAS gene mutation in Korea. So we hope this case will be a help to diagnosis and treatment of Noonan syndrome from birth.

누난 증후군은 전형적인 얼굴 모양, 선천성 심질환, 저신장을 특징으로 하는 우성유전 질환으로 출생시부터 임상증상으로 진단하는데 어려움이 있다. 이에 최근 RAS-MAPK 경로 변이로 확진되는 경우가 많고, 유전 변이 유형에 따른 임상 증상이 차이가 나는 경우도 많다. 유전 변이 확진으로 말미암아 임상 증상에 대한 적극적인 치료와 경과 관찰이 중요하므로 저자들은 국내에서 드문 KRAS 유전 변이 환아를 출생시부터 임상증상으로 진단하고 확진한 경험을 하여 이를 보고하는 바이다.

Keywords

References

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