Journal of Genetic Medicine

  • 제8권2호
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  • Pages.130-134
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  • 2011
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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TWIST1 유전자의 돌연변이가 확인된 Saethre-Chotzen 증후군 2례

Two Children with Saethre-Chotzen Syndrome Confirmed by the TWIST1 Gene Analysis

  • 고정민 (서울대학교 의과대학 소아청소년과학교실) ;
  • 양정아 (아주대학교 의과대학 의학유전학과) ;
  • 정선용 (아주대학교 의과대학 의학유전학과) ;
  • 윤수한 (아주대학교 의과대학 신경외과학교실)
  • Ko, Jung-Min (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Yang, Jung-Ah (Department of Medical Genetics, Ajou University School of Medicine) ;
  • Jeong, Seon-Yong (Department of Medical Genetics, Ajou University School of Medicine) ;
  • Yoon, Soo-Han (Department of Neurosurgery, Ajou University School of Medicine)
  • 투고 : 2011.11.22
  • 심사 : 2011.12.16
  • 발행 : 2011.12.31
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초록

Saethre-Chotzen 증후군은 상염색체 우성의 유전 방식을 보이는 두개골유합증후군(craniosynostosis)의 하나로, 원인 유전자는 TWIST1로 알려져 있다. Saethre-Chotzen 증후군의 임상 증상은 두개골유합증 중에서도 특히 관상봉합(coronal suture)이 편측 혹은 양측으로 조기에 폐쇄되는 것이 특징적이며, 이외에도 안검하수, 낮게 위치한 귀, 청력 소실, 손발가락의 기형 등 다양한 이상이 동반될 수 있다. 저자들은 양측성 관상봉합 두개골유합증과 특징적인 얼굴 모습, 다양한 동반 기형을 보인 두 명의 환자에서 TWIST1 유전자의 원인 돌연변이를 각각 확인하고 Saethre-Chotzen 증후군을 확진하였기에, 국내에서 처음으로 보고하는 바이다. 특히, TWIST1 유전자 분석은 관상봉합 유합증을 보이는 환자에서 질환을 확진하고, 및 환자와 가족에 대한 적절한 유전 상담을 제공하는데 유용한 검사로 생각된다.

Saethre-Chotzen syndrome is an autosomal dominant craniosynostosis syndrome, usually involving unior bilateral coronal synostosis and mild limb deformities, and is induced by loss-of-function mutations of the TWIST1 gene. Other clinical features of this syndrome include ptosis, low-set ears, hearing loss, hypertelorism, broad great toes, clinodactyly, and syndactyly. The authors of the present study report 2 children with clinical features of Saethre-Chotzen syndrome who showed mutations in the TWIST1 gene, and is the first molecular genetic confirmation of Saethre-Chotzen syndrome in Korea. The molecular genetic testing of the TWIST1 gene for patients with coronal synostoses is important to confirm the diagnosis and to provide adequate genetic counseling.

키워드

참고문헌

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