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Psychiatr Genet. 2020 Apr;30(2):60-63. doi: 10.1097/YPG.0000000000000250.

Whole-exome sequencing in a family with a monozygotic twin pair concordant for schizophrenia and a follow-up case-control study of identified de-novo variants.

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Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences.
Minamihama Hospital, Niigata.
Department of Psychiatry, Kobe University Graduate School of Medicine, Kobe, Hyogo.
Mano Mizuho Hospital, Sado, Niigata.
Department of Psychiatry, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.


Whole-exome sequencing (WES) studies have shown that de-novo variants contribute to the genetic etiology of schizophrenia. WES studies of families with a monozygotic twin pair concordant or discordant for a disease may be fruitful for identifying de-novo pathogenic variants. Here, we performed WES in six individuals from one family (affected monozygotic twins, their unaffected parents, and two siblings) and identified three de-novo missense variants (CPT2 Ala283Thr, CPSF3 Val584Ile, and RNF148 Val210Ile) in the monozygotic twin pair concordant for schizophrenia. These three missense variants were not found in 1760 patients with schizophrenia or schizoaffective disorder or 1508 healthy controls. Our data do not support the role of the three missense variants in conferring risk for schizophrenia.

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