The : a rare clinical case reportTWIST2: a rare clinical case report mutation causes Setleis syndrome: a rare clinical case report
SS can have an inheritance pattern of either autosomal recessive or autosomal dominant. Characteristic facial dysmorphic features of the patients are forceps-like lesions at the temples, multiple rows of eyelashes on the upper eyelid (distichiasis), sparse lateral and upslanting eyebrows, absent meibomian glands, slanted eyebrows, wrinkled facial skin, a bulbous nose, thick protruding lips, and chin defects, which have been described as a leonine appearance (Setleis et al., 1963; Kent et al., 2007; Cervantes-Barragán et al., 2011; Giordano et al., 2014; Girisha et al., 2014). A homozygous nonsense mutation was reported in the TWIST2 gene, encoding a member of the basic helix–loop–helix protein (bHLH) family, a transcriptional regulatory protein functioning in mesenchymal cell lineage differentiation (Tukel et al., 2010). In 2013, a CYP26C1 gene mutation was reported as a cause of FFDD type IV by (Slavotinek et al., 2013). In addition, duplications of chromosome 1p36 have been reported as a cause in FFDD and SS without the presence of a TWIST2 mutation (Weaver et al., 2015).
Here, we report a patient clinically and molecularly diagnosed with SS and mild dysmorphic features of heterozygous mutated cases in heterozygotes in his family.