Search for genetic variations conferring risk of schizophrenia by exome sequencing in a Japanese multiplex pedigree

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To identify rare penetrant risk variations for schizophrenia, we performed exome sequencing in a Japanese multiplex schizophrenia pedigree. We obtained DNA from six affected, eight unaffected and one unknown affection status individuals in the pedigree. A total of 302,005 sequence variations were called in the exome sequencing of two affected and one unaffected individuals.We selected seven putatively functional missense variations as candidate risk variations for schizophrenia. Among four variations confirmed by Sanger sequencing, V1525M variation in the UNC13B gene was most strongly cosegregated with schizophrenia in the pedigree. These results suggest that the UNC13B V1525M variation is a potential risk variant for schizophrenia.