TWIST1 Deletion/Duplication

Test Background

Saethre-Chotzen syndrome (SCS) is caused by either sequence variants or deletions of the TWIST1 gene. It is inherited in an autosomal dominant manner. Mutations may be inherited from an affected parent or may be de novo. SCS is characterized by coronal synostosis, facial asymmetry, ptosis, and a distinctive ear appearance of a small pinna with prominent crus. In some cases there may also be syndactyly of digits 2 and 3 on the hand. Intellect is generally normal, although individuals with a large deletion are more likely to have developmental delays. This laboratory performs both Sanger sequencing of the TWIST1 gene and deletion/duplication by MLPA.



Lab Method


About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.

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