Article
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
American journal of human genetics - 2 Jul 2015
Marchegiani Shannon, Davis Taylor, Tessadori Federico, van Haaften Gijs, Brancati Francesco, Hoischen Alexander, Huang Haigen, Valkanas Elise, Pusey Barbara, Schanze Denny, Venselaar Hanka, Vulto-van Silfhout Anneke T, Wolfe Lynne A, Tifft Cynthia J, Zerfas Patricia M, Zambruno Giovanna, Kariminejad Ariana, Sabbagh-Kermani Farahnaz, Lee Janice, Tsokos Maria G, Lee Chyi-Chia R, Ferraz Victor, da Silva Eduarda Morgana, Stevens Cathy A, Roche Nathalie, Bartsch Oliver, Farndon Peter, Bermejo-Sanchez Eva, Brooks Brian P, Maduro Valerie, Dallapiccola Bruno, Ramos Feliciano J, Chung Hon-Yin Brian, Le Caignec Cédric, Martins Fabiana, Jacyk Witold K, Mazzanti Laura, Brunner Han G, Bakkers Jeroen, Lin Shuo, Malicdan May Christine V, Boerkoel Cornelius F, Gahl William A, de Vries Bert B A, van Haelst Mieke M, Zenker Martin, Markello Thomas C
Abstract excerpt
Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as...
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