Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Two Children with Saethre-Chotzen Syndrome Confirmed by the TWIST1 Gene Analysis

TWIST1 유전자의 돌연변이가 확인된 Saethre-Chotzen 증후군 2례

  • 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)
  • 고정민 (서울대학교 의과대학 소아청소년과학교실) ;
  • 양정아 (아주대학교 의과대학 의학유전학과) ;
  • 정선용 (아주대학교 의과대학 의학유전학과) ;
  • 윤수한 (아주대학교 의과대학 신경외과학교실)
  • Received : 2011.11.22
  • Accepted : 2011.12.16
  • Published : 2011.12.31
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Abstract

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.

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.

Keywords

References

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