Abstract
TRIO 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 of TRIO 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 new TRIO-associated phenotype by reporting two severely affected probands with de novo missense variants in TRIO affecting the spectrin repeat region upstream of the typically affected GEF1 domain of the protein.
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We would like to thank the probands and their families for participating in this study.
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The study conformed to the tenets of the Declaration of Helsinki and was approved by the Ethics Committee of the Hamburg Medical Chamber [PV3802].
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Kloth, K., Graul-Neumann, L., Hermann, K. et al. More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly. Neurogenetics 22, 221–224 (2021). https://doi.org/10.1007/s10048-021-00648-3
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DOI: https://doi.org/10.1007/s10048-021-00648-3