biostudies-literatureCoulter MENational Institute of Neurological Disorders and StrokeNIBIB NIH HHSHoward Hughes Medical InstituteNIMH NIH HHSNHGRI NIH HHSNINDS NIH HHSNancy Lurie Marks Family FoundationNational Institute of Mental HealthAllen FoundationNational Human Genome Research InstituteNational Institute of Biomedical Imaging and BioengineeringBoston Children’s Hospital Orthopaedic Surgery Foundation1040-1050https://www.ebi.ac.uk/biostudies/studies/S-EPMC7272323biostudies-literatureUnknown22(6)<h4>Purpose</h4>The exocyst complex is a conserved protein complex that mediates fusion of intracellular vesicles to the plasma membrane and is implicated in processes including cell polarity, cell migration, ciliogenesis, cytokinesis, autophagy, and fusion of secretory vesicles. The essential role of these genes in human genetic disorders, however, is unknown.<h4>Methods</h4>We performed homozygosity mapping and exome sequencing of consanguineous families with recessively inherited brain development disorders. We modeled an EXOC7 splice variant in vitro and examined EXOC7 messenger RNA (mRNA) expression in developing mouse and human cortex. We modeled exoc7 loss-of-function in a zebrafish knockout.<h4>Results</h4>We report variants in exocyst complex members, EXOC7 and EXOC8, in a novel dGenetics in medicine : official journal of the American College of Medical GeneticsRegulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.PMC7272323n/aF32 NS100338K99 NS1126045T32EB1680R01 NS032457F30 MH102909R01 NS035129K01 MH109747Medical Student FellowshipR01 NS35129U01 MH106883T32 EB001680Allen Discovery Center programUM1 HG008900Burglen LAziza JGleeson JGJames KNHatem NZaki MSHenke KBarkovich AJHill RSAl-Gazali LRajab AWalsh CASmith RSKamumbu ASZhang XChassaing NMochida GHPartlow JNMusaev DHarris MPSultan TCoulter MEDeGennaro EMMuna Al-SaffarfalseRegulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.<h4>Purpose</h4>The exocyst complex is a conserved protein complex that mediates fusion of intracellular vesicles to the plasma membrane and is implicated in processes including cell polarity, cell migration, ciliogenesis, cytokinesis, autophagy, and fusion of secretory vesicles. The essential role of these genes in human genetic disorders, however, is unknown.<h4>Methods</h4>We performed homozygosity mapping and exome sequencing of consanguineous families with recessively inherited brain development disorders. We modeled an EXOC7 splice variant in vitro and examined EXOC7 messenger RNA (mRNA) expression in developing mouse and human cortex. We modeled exoc7 loss-of-function in a zebrafish knockout.<h4>Results</h4>We report variants in exocyst complex members, EXOC7 and EXOC8, in a novel d2020-01-01T00:00:00Z2020 Jun2026-06-02T16:15:48.402Z2020-06-20T07:04:02ZS-EPMC72723233210318510.1038/s41436-020-0758-9