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KMID : 1189120110080020130
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대한의학유전학회지
2011 Volume.8 No. 2 p.130 ~ p.134
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Two Children with Saethre-Chotzen Syndrome Confirmed by the TWIST1 Gene Analysis
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Ko Jung-Min
Yang Jung-A
Jeong Seon-Yong
Yoon Soo-Han
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Abstract
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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
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KEYWORD
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Craniosynostosis, Coronal synostosis, Brachycephaly, TWIST1
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