Saethre-Chotzen syndrome

Definition

Saethre-Chotzen syndrome (SCS) is an autosomal dominant disease characterized by craniosynostosis, ptosis, and limb and external ear abnormalities. Mutations in the TWIST gene have been extensively reported in SCS. In addition, mutations in FGFR2 were also detected.

References:

[1]. Hélène Dollfus, et al. Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. Am J Med Genet. 2002 May 1;109(3):218-25. [Content Brief]

[2]. V El Ghouzzi, et al. Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome. FEBS Lett. 2001 Mar 9;492(1-2):112-8. [Content Brief]

[3]. W A Paznekas, et al. Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Am J Hum Genet. 1998 Jun;62(6):1370-80. [Content Brief]

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