The : a rare clinical case reportTWIST2: a rare clinical case report mutation causes Setleis syndrome: a rare clinical case report

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The focal facial dermal dysplasias (FFDDs) are a group of rare ectodermal disorders inherited in an either autosomal dominant or an autosomal recessive pattern with characteristic facial abnormalities and bitemporal scar-like depressions resembling forceps marks (Slavotinek et al., 2013). Four subtypes of FFDDs have been reported to date. Of these, type I FFDD, or Brauer syndrome (MIM 136500), has an autosomal dominant inheritance pattern and the affected patients mostly have only the characteristic bitemporal lesions. Type II FFDD (MIM 614973), Brauer–Setleis syndrome, shows an intermediate phenotype with autosomal dominant inheritance. Type III FFDD or Setleis syndrome (SS) (MIM 227260) is a severe form of FFDD with obvious dysmorphic features in affected individuals. Finally, type IV FFDD (MIM 614974) is characterized by preauricular atrophic skin lesions. (Kowalski and Fenske, 1992).
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.
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