G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex

Xianhua Piao, Sean S. Hill, Adria Bodell, Bernard S. Chang, Lina Basel-Vanagaite, Rachel Straussberg, William B. Dobyns, Bassam Qasrawi, Robin M. Winter, A. Micheil Innes, Thomas Voit, M. Elizabeth Ross, Jacques L. Michaud, Jean Claude Déscarie, A. James Barkovich, Christopher A. Walsh

Research output: Contribution to journalArticlepeer-review

355 Scopus citations


The mammalian cerebral cortex is characterized by complex patterns of anatomical and functional areas that differ markedly between species, but the molecular basis for this functional subdivision is largely unknown. Here, we show that mutations in GPR56, which encodes an orphan G protein-coupled receptor (GPCR) with a large extracellular domain, cause a human brain cortical malformation called bilateral frontoparietal polymicrogyria (BFPP). BFPP is characterized by disorganized cortical lamination that is most severe in frontal cortex. Our data suggest that GPCR signaling plays an essential role in regional development of human cerebral cortex.

Original languageEnglish (US)
Pages (from-to)2033-2036
Number of pages4
Issue number5666
StatePublished - Mar 26 2004
Externally publishedYes


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