Journal of Genetic Medicine

  • 제7권2호
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  • Pages.151-155
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  • 2010
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
권호 표지

FGFR2 유전자의 8번째 엑손부위의 P253R 돌연변이로 진단된 Apert 증후군 1례

A Case of Apert Syndrome with a P253R Mutation on FGFR2 Exon VIII

  • 이영진 (부산대학교 의학전문대학원 소아과학교실) ;
  • 고정민 (아주대학교병원 유전학클리닉) ;
  • 박성식 (부산대학교 의학전문대학원 소아과학교실) ;
  • 전종근 (부산대학교 의학전문대학원 소아과학교실)
  • Lee, Young-Jin (Department of Pediatrics College of Medicine, Pusan National University) ;
  • Ko, Jung-Min (Department of Medical Genetics, Ajou University Hospital) ;
  • Park, Seong-Shik (Department of Pediatrics College of Medicine, Pusan National University) ;
  • Cheon, Chong-Kun (Department of Pediatrics College of Medicine, Pusan National University)
  • 투고 : 2010.11.03
  • 심사 : 2010.12.22
  • 발행 : 2010.12.01
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초록

Apert 증후군은 두부와 손발의 골 및 연부조직의 성장장애로 인해 발생하는 선천적 질환으로 두개골의 기형과 사지의 대칭적 합지증을 특징으로 하는 드문 질환이다. Apert증후군은 변이된 FGFR2 유전자에 의해 발생한다고 알려져 있으며 세계적으로 S252W 돌연변이가 가장 흔하고, P253R돌연변이는 드물게 보고되고 있다. 국내에서는 엑손IIIa에서 S252W 돌연변이가 보고된 경우가 있다. 본 증례에서는 두 개 봉합선의 조기 융합으로 인한 두부의 특징적인 기형, 손과 발의 심한 합지증을 동반하는 전형적인 Apert 증후군 영아에서 FGFR2 유전자의 8번째 엑손부위에서의 P253R 돌연변이가 확인되었기에 보고하는 바이다. 향후 유전자-표현자형의 대한 연구, 발생 기전 및 치료와 관련한 분자 생물학적 연구가 더 필요할 것으로 사료된다.

Apert syndrome is a rare congenital anomaly characterized by craniofacial malformations and severe symmetrical syndactyly of fingers and toes. This syndrome is caused by a genetic mutation; the S253 mutation is common, though the P253R mutation is not as frequent. Common symptoms include skeletal malformations, poor joint mobility, eye and ear problems, cleft palate, and orthodontic and other dental problems. We report a case of an infant with the common morphological features of Apert syndrome. Interestingly, she was found to have the P253R mutation in FGFR2 exon VIII, which has been less commonly observed in Korea. A brief review of the literature is included.

키워드

참고문헌

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