More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly

AbstractTRIO is a Dbl family guanine nucleotide exchange factor (GEF) and an important regulator of neuronal development. Most truncating and missense variants affecting the Dbl homology domain ofTRIO are associated with a neurodevelopmental disorder with microcephaly (MIM617061). Recently, de novo missense variants affecting the spectrin repeat region of TRIO were associated with a novel phenotype comprising severe developmental delay and macrocephaly (MIM618825). Here, we provide more evidence on this newTRIO-associated phenotype by reporting two severely affected probands with de novo missense variants inTRIO affecting the spectrin repeat region upstream of the typically affected GEF1 domain of the protein.

Source: Neurogenetics - May 19, 2021 Category: Genetics & Stem Cells Source Type: research