Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions.

doi:10.1016/j.gim.2025.101661

Article

Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2026

Cerminara Maria, Spirito Giovanni, Pandolfini Luca, Boeri Silvia, Rosti Giulia, Mancardi Margherita, Pisciotta Livia, Fontana Marco, Bianchi Alessandra, Chen Iris, Ferrera Loretta, Caroli Francesco, Di Duca Marco, Cavalli Andrea, Divizia Maria Teresa, De Grandis Elisa, Casabona Silvia, Trova Sara, Vozzi Diego, Amoroso Antonio, Obino Laure, Sanges Remo, Vecchi Manuela, Nobili Lino, Zara Federico, Gustincich Stefano, Puliti Aldamaria

Abstract excerpt

PURPOSE: Developmental regression, characterized by the loss of acquired milestones, occurs in some individuals with neurodevelopmental disorders (NDDs); yet, its molecular basis remains unclear. Studies suggest that DNA damage repair (DDR) genes, such as FAN1, may protect against neurological dysfunction by modulating the somatic stability of short tandem repeats (STRs). This study explores the contribution of...

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Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions.

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