TRAPPC9 gene causing intellectual disability and autism
3 de junio de 2022 | 12:00 - 13:30
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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