Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome

Abstract

Barber-Say syndrome is a rare autosomal dominant disease characterized by dysmorphic features, mainly of the eyelids and skin. It is caused by heterozygous mutations in gene TWIST2, localized in chromosome 2q37.3. The authors present the case of a pediatric patient with a clinical diagnosis of Barber-Say syndrome with ocular symptoms related to exposure keratitis. Molecular analysis of her DNA revealed a mutation on TWIST2 gene confirming the diagnosis of Barber-Say syndrome. Surgical treatment of the patient's eyelids resolved her signs and symptoms.

Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor

“…A total of 101 cases from the literature were eligible for inclusion (Aldred et al, ; Arefzadeh, Khalighinejad, Ataeinia, & Parvar, ; Bijlsma et al, ; Casas et al, ; Chaabouni et al, ; Chassaing et al, ; Cho, Kim, Yang, Cho, & Jin, ; Chu et al, ; Conrad et al, ; D'Angelo et al, ; Felder et al, ; Fisher et al, ; Galasso et al, ; Ghaziuddin & Burmeister, ; Giardino et al, ; Gorski, Cox, Kyine, Uhlmann, & Glover, ; Jean‐Marcais et al, ; Kitsiou‐Tzeli et al, ; Lally, Ibrahim, Kelly, & Gulati, ; Lehman, Zaleski, Sanger, & Adickes, ; Leroy et al, ; Lin et al, ; Mazzone et al, ; Ogura, Takeshita, Arakawa, Shimojima, & Yamamoto, ; Phelan et al, ; Power et al, ; Rauch, Pfeiffer, & Trautmann, ; Reddy, Flannery, & Farrer, ; Sakai et al, ; Shrimpton, Braddock, Thomson, Stein, & Hoo, ; Simsek‐Kiper et al, ; Smith et al, ; Sogaard et al, ; Stratton, Tolworthy, & Young, ; Tammachote et al, ; Tassano et al, ; Villavicencio‐Lorini et al, ; Viot‐Szoboszlai et al, ; Wang, Johnston, Hsieh, & Dennery, ; Waters, Allen, Gibson, & Johnston, ; Wenger, Boone, Surti, & Steele, ; Wheeler, Huang, & Dai, ; Williams, Aldred, et al, ; Wilson et al, ; Wolff, Clifton, Karr, & Charles, ; Young et al, ; Zuazo et al, ), in addition to the two novel cases presented here.…”