Article
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Human mutation - 1 Apr 2022
Gofin Yoel, Wang Tianyun, Gillentine Madelyn A, Scott Tiana M, Berry Aliska M, Azamian Mahshid S, Genetti Casie, Agrawal Pankaj B, Picker Jonathan, Wojcik Monica H, Delgado Mauricio R, Lynch Sally A, Scherer Stephen W, Howe Jennifer L, Bacino Carlos A, DiTroia Stephanie, VanNoy Grace E, O'Donnell-Luria Anne, Lalani Seema R, Graf William D, Rosenfeld Jill A, Eichler Evan E, Earl Rachel K, Scott Daryl A
Abstract excerpt
PAX5 is a transcription factor associated with abnormal posterior midbrain and cerebellum development in mice. PAX5 is highly loss-of-function intolerant and missense constrained, and has been identified as a candidate gene for autism spectrum disorder (ASD). We describe 16 individuals from 12 families who carry deletions involving PAX5 and surrounding genes, de novo frameshift variants that are likely to trigger...
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