GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature

• Published in: Molecular syndromology Vol. 10; no. 4; pp. 186 - 194
• Main Authors: Trubnykova, Milana, Bazalar Montoya, Jeny, La Serna-Infantes, Jorge, Vásquez Sotomayor, Flor, Castro Mujica, María del Carmen, Abarca Barriga, Hugo Hernán
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland S. Karger AG 01.07.2019
• Subjects: Original; Original Article; Chromosomal microarray analysis; Copy number variation; Intellectual disability; MRD18; GATAD2B

Pathogenic variants of the GATAD2B gene (1q21.3) are linked to intellectual disability autosomal dominant type 18 (MRD18; MIM 615074), characterized by dysmorphic features, psychomotor and language delay. We present an 11-year-old female patient with intellectual disability and typical clinical char...