Koolen-de Vries syndrome – National Case Series with clinical and molecular characterization

• Author(s): Soares, Marta P. ; Rodrigues, Márcia ; Dupont, Juliette ; Medeira, Ana ; Freixo, João ; Nunes, Sofia ; Cordeiro, Isabel ; Travessa, André ; Soares, Gabriela ; Fortuna, Ana ; Ramos, Fabiana ; Sá, Joaquim ; Rocha, Susana ; Figueiredo, Cristina ; Mendonça, Carla ; Tapadinhas, Fernando ; Silveira-Santos, Rosário ; Custódio, Sónia ; Barreta, Ana ; Serafim, Sílvia ; Correia, Hildeberto ; Val, Mariana ; Carreira, Isabel M. ; Rendeiro, Paula ; Sousa, Ana ; Sousa, Ana Berta
• Date: 2019
• Persistent ID: http://hdl.handle.net/10400.18/6968
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Koolen-de Vries syndrome; National Case Series; 17q21.31 Deletion; KANSL1 gene; Doenças Genéticas
• Document Type: Conference object
• Language: English
• Contributor(s): Repositório Científico do Instituto Nacional de Saúde

Description

Introduction: Koolen-de Vries Syndrome (KdVS) is a rare genetic condition, caused by a 17q21.31 microdeletion, or a pathogenic variant in KANSL1 gene. The clinical picture includes developmental delay (DD)/intellectual disability (ID) with expressive language particularly impaired, dysmorphisms, neonatal hypotonia, and friendly behaviour. Aim: To characterize at the molecular and clinical levels all patients in Portugal diagnosed with KdVS.