Characterization of TRAPPC10 variants in patient-derived fibroblasts and in a knockout model

The TRAPP complex is a large protein complex involved in a number of different cellular processes including membrane traffic. Individuals with mutations in the genes encoding the proteins of this complex have been increasingly identified using whole exome and whole genome sequencing methods. To date, only a single individual with a candidate (and not yet confirmed as causative) mutation in the gene encoding the TRAPPC10 component of this complex has been reported as part of a much larger cohort. The Crosby/Baple group in the UK have identified an extended multinuclear family with several individuals with neurodevelopmental delay, in which a mutation in the TRAPPC10 gene cosegregates. Together with the previous report of the candidate TRAPPC10 gene mutation, this provides strong genetic evidence to define TRAPPC10 gene mutation as a cause of this condition. TO BE CONT’D

Faculty Supervisor:

Michael Sacher

Student:

Partner:

University of Exeter

Discipline:

Life Sciences

Sector:

Education

University:

Concordia University

Program: