Novel de novo pathogenic variant in the GNAI1 as a cause of severe disorders of intellectual development with autistic features

Pathogenic sequence variant in the GNAI1 gene were recently introduced as a cause of novel syndrome with a manifestation of variable developmental delay and autistic features. We report on a case of monozygotic twins with severe intellectual and motor delay and developmental dysphasia. Both probands were examined using multi-step molecular diagnostic algorithm resulting in the identification of a novel, de novo pathogenic sequence variant in the GNAI1 gene, NM_002069.6:c.815A>G, p.(Asn272Gly) with subsequent confirmation of 8q24.23q24.3 duplication and heterozygous 5q13.2 deletion by whole-exome sequencing (WES). Our case confirmed the role of GNAI1 pathogenic sequence variant in the GNAI1 gene in the pathogenesis of neurodevelopmental disorders.EGA study EGAS00001005346