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

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-Chotzen증후군은상염색체우성의유전방식을보이는 두개골유합증후군(craniosynostosis)의 하나로, 원인 유전자는TWIST1로알려져있다. Saethre-Chotzen증후군의임상증상은두개골유합증 중에서도 특히 관상봉합(coronal suture)이 편측혹은양측으로 조기에 폐쇄되는것이특징적이며, 이외에도 안검하수, 낮게위치한귀, 청력소실, 손발가락의기형등 다양한이상이동반될수있다. 저자들은 양측성관상봉합두개골유합증과 특징적인 얼굴 모습, 다양한 동반 기형을 보인 두 명의 환자에서 TWIST1 유전자의 원인 돌연변이를 각각 확인하고 Saethre-Chotzen증후군을확진하였기에, 국내에서처음으로보고하는바이다. 특히,TWIST1 유전자분석은관상봉합유합증을보이는환자에서질환을확진하고, 및환자와가족에대한적절한유전상담을 제공하는데 유용한 검사로 생각된다.