3 de junio de 2022.  Anfiteatro IDIS

PONENTE: Neveen Ashaat

Intellectual disability (ID) is a common neurodevelopmental disorder that can occur by itself (non-syndromic ID) or in combination with other clinical manifestations (syndromic ID). The Trafficking Protein Particle Complex subunit 9 (TRAPPC9) gene is one of several linked to both types of ID and autism. By using whole-exome sequencing (WES), we found a homozygous transition (c.2635C > T) in exon 16 of the TRAPPC9 gene.

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