Medicine and Health

Whole genome sequencing study of identical twins discordant for psychosis

C. Ormond, N. M. Ryan, et al.

Explore the groundbreaking findings from Cathal Ormond and colleagues that reveal how rare genetic variations may explain the differences seen in monozygotic twins affected by psychotic disorders. This research delves into the genetic mysteries that could reshape our understanding of conditions like schizophrenia and bipolar disorder.

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Playback language: English

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Abstract

This study performed whole genome sequencing (WGS) on 17 pairs of monozygotic (MZ) twins discordant for psychotic disorders (schizophrenia, schizoaffective disorder, or bipolar disorder). The researchers identified four genes (FOXN1, FLOT2, NUTM2G, KRTAP10-6) harboring rare, predicted deleterious missense variants private to an affected twin. Additionally, four rare genic copy number variants (CNVs) were found exclusively in affected twins, including a 3q29 duplication previously linked to autism and developmental delay. The findings suggest that rare genetic variations may contribute to phenotypic discordance in MZ twins with psychotic disorders.

Publisher

Translational Psychiatry

Published On

Jul 30, 2024

Authors

Cathal Ormond, Niamh M. Ryan, Anna M. Hedman, Tyrone D. Cannon, Patrick F. Sullivan, Michael Gill, Christina Hultman, Elizabeth A. Heron, Viktoria Johansson, Aiden Corvin

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