Article
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.
Clinical genetics - 1 Sept 2026
Burchfiel Evan, Zhao Xiaonan, Owen Nichole M, Gordon Tia, Azamian Mahshid S, Kao Eric C, Xia Fan, Luo Xi, Rosenfeld Jill A, Lalani Seema R, Ortega Allison P, Bleyl Steven B, Petit Florence, Rajagopolan Sulekha, Demeer Bénédicte, Gillespie Meredith K, Huang Lijia, Osmond Matthew, Boycott Kym M, Stuurman Kyra E, van Slegtenhorst Marjon A, Soller Haley, Jost Céline, Garde Aurore, Safraou Hana, Faivre Laurence, Faundes Victor, Scott Daryl A
Abstract excerpt
SEMA6A is a transmembrane protein that plays a role in axon guidance and cell migration. Sema6a null mice have cerebral anatomical defects and altered social interactions and working memory. However, the phenotypes associated with loss of SEMA6A function have not been clearly defined in humans. Here we describe 11 individuals who are heterozygous for putatively damaging variants affecting SEMA6A. All of these...
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