A de novo mutation (p.S1419F) of Retinoic acid induced 1 is responsible for a patient with Smith-Magenis syndrome exhibiting schizophrenia

•A novel mutation (NM_030665.3: c.4256C > T/p.S1419F) of RAI1 was identified by whole exome sequencing and Sanger sequencing in a patient with Smith-Magenis syndrome, schizophrenia and headache.•The phenotype of schizophrenia may be first detected caused by RAI1 mutation worldwide.•Our study may expand the spectrum of RAI1 mutation, which may further contribute to the mechanisms underlying the RAI1, Smith-Magenis syndrome, schizophrenia and headache.