EGAGenomicsCancer Genomicshttps://ega-archive.org/studies/EGAS00001005355EGAEGA study EGAS00001005355GNAI1 CGH ArrayEGArestrictednon-neoplastic, Gi, development, other disease, disease, human disease, AU046200, postnatal development., diseases, single-organism developmental process, Gnai-1, disease or disorder, disorders, postnatal growth, condition, disorder, diseases and disorders, Homo sapiens disease, growth and development, medical condition, growth, Gialpha1, gnai1, SevereMental and motor retardation, cluster, Gi, Materials, Disorders, GRP1/cytohesin 1, syndrome associated with disease or disorder, Complete Exome, Motor developmental delay, Neurodevelopmental Disorder, regulation by symbiont of host system process, positive regulation by symbiont of host non-apoptotic programmed cell death, Gene, Progress Reports, gnai1, syndromic disease or disorder, Child, Disorders Usually Diagnosed in Infancy, CG11633, cytohesin/GRP1, Childhood or Adolescence, Delayed motor milestones, specific language disorder, "syndrome, Investigative, Roles, induction by organism of non-apoptotic programmed cell death in other organism during symbiotic interaction, Summary Report, GRP1, "syndrome" EXACT [MTH:NOCODE], Grp1, Twin, Gnai-1, symptom clusters, Concepts, pathogenesis, symptom, Whole Transcriptome, Transcriptome Sequencing, Summary Reports, WES, Complete, Exome Sequencings, Mental Disorders Diagnosed in Childhood, Genetic, stimulation by symbiont of host programmed cell death, Progress Report, Complete Exome Sequencing, PTPSTEP, Whole Transcriptome Sequencing, l(2)SH2 0323, syndrome, causes, syndromes, dysphasia, Symptom, Sequencing, Progress, Whole Exome, NOS" EXACT [SNOMEDCT_2005_07_31:64572001], Field Reports, Neural-specific protein-tyrosine phosphatase, syndromic disease, l(2)k08110, Retarded motor development, Whole, Disorder, Symptom Clusters, Role Concepts, causality, Mental Disorders, Investigative Reports, GPH, Motor retardation, activation by organism of non-apoptotic programmed cell death in other organism, Child Mental Disorder, Child Mental, AU046200, Complete Exome Sequencings, hemolysin activity, DP, Exome, stepk, Clusters, Gialpha1, Cistrons, Concept, Exome Sequencing, symptom cluster, Role Concept, Cognitive delay, Investigative Report, Symptom Cluster, Algorithm, Research Reports, 3.1.3.48, Role, modulation by symbiont of host system process, sequence, Genetic Materials, Neurodevelopmental Disorders Usually Diagnosed in Infancy, l(2)SH0323, Genetic Material, Delayed early motor milestones, CYH1, Delay in motor development, Complete Transcriptome, Motor developmental milestones not achieved, Locomotor delay, Complete Transcriptome Sequencing, Child Mental Disorders, Step, CG11628, No development of motor milestones, Field, INSDC_feature:gene, Striatum-enriched protein-tyrosine phosphatase, primary structure of sequence macromolecule, clusters, DmelCG11628, Neurodevelopmental, Neurodevelopmental Disorders., Report, Syndromes, Cluster, Reports, Material, STEP, DEL, activation by symbiont of host programmed cell death, Whole Exome Sequencing, Mental Disorders Usually Diagnosed in Infancy, Cistron, neurodevelopmental disorder, variable, Delayed motor development, Summary, Transcriptome Sequencings, Severe, Field Report, Mental DisorderfalseNovel de novo pathogenic variant in the GNAI1 as a cause of severe disorders of intellectual development with autistic featuresPathogenic 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.2021-06-25 17:04:40EGAS000010053559606EGAD00001007742EGAC00001002151