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Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes

Whole Exome Sequencing (WES) studies provide important insights into the genetic architecture of serious mental illness (SMI). Genes that are central to the shared biology of SMIs may be identified by WES in families with multiple affected individuals with diverse SMI (F-SMI). We performed WES in 22...

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Published in:Scientific reports 2022-12, Vol.12 (1), p.21128-11, Article 21128
Main Authors: Ganesh, Suhas, Vemula, Alekhya, Bhattacharjee, Samsiddhi, Mathew, Kezia, Ithal, Dhruva, Navin, Karthick, Nadella, Ravi Kumar, Viswanath, Biju, Sullivan, Patrick F., Jain, Sanjeev, Purushottam, Meera
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description Whole Exome Sequencing (WES) studies provide important insights into the genetic architecture of serious mental illness (SMI). Genes that are central to the shared biology of SMIs may be identified by WES in families with multiple affected individuals with diverse SMI (F-SMI). We performed WES in 220 individuals from 75 F-SMI families and 60 unrelated controls. Within pedigree prioritization employed criteria of rarity, functional consequence, and sharing by ≥ 3 affected members. Across the sample, gene and gene-set-wide case–control association analysis was performed with Sequence Kernel Association Test (SKAT). In 14/16 families with ≥ 3 sequenced affected individuals, we identified a total of 78 rare predicted deleterious variants in 78 unique genes shared by ≥ 3 members with SMI. Twenty (25%) genes were implicated in monogenic CNS syndromes in OMIM (OMIM-CNS), a fraction that is a significant overrepresentation (Fisher’s Exact test OR = 2.47, p = 0.001). In gene-set SKAT, statistically significant association was noted for OMIM-CNS gene-set (SKAT-p = 0.005) but not the synaptic gene-set (SKAT-p = 0.17). In this WES study in F-SMI, we identify private, rare, protein altering variants in genes previously implicated in Mendelian neuropsychiatric syndromes; suggesting pleiotropic influences in neurodevelopment between complex and Mendelian syndromes.
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subjects 631/208
631/208/212
631/208/366
631/208/514
631/378/2583
631/477/2811
631/61/212
631/61/514
692/308
Association analysis
Exome Sequencing
Genes
Genetic Pleiotropy
Humanities and Social Sciences
Humans
Medicin och hälsovetenskap
Mental disorders
multidisciplinary
Pleiotropy
Science
Science (multidisciplinary)
Statistical analysis
title Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes
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