Article
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.
American journal of human genetics - 5 Jun 2025
Guzman Stacy G, Ruggiero Sarah M, Ganesan Shiva, Ellis Colin A, Harrison Alicia G, Sullivan Katie R, Stark Zornitza, Brown Natasha J, Kana Sajel L, Tuttle Anabelle, Tenorio Jair, Lapunzina Pablo, Nevado Julián, McDonald Marie T, Jensen Courtney, Wheeler Patricia G, Stange Lila, Morrison Jennifer, Keren Boris, Heide Solveig, Keating Meg W, Butler Kameryn M, Lyons Mike A, Jain Shailly, Yeganeh Mehdi, Thompson Michelle L, Schroeder Molly, Nguyen Hoanh, Granadillo Jorge, Johnston Kari M, Murali Chaya N, Bosanko Katie, Burrow T Andrew, Morgan Syreeta, Watson Deborah J, Hakonarson Hakon, Helbig Ingo
Abstract excerpt
Disease-causing variants in synaptic function genes are a common cause of neurodevelopmental disorders (NDDs) and epilepsy. Here, we describe 14 individuals with de novo disruptive variants in BSN, which encodes the presynaptic protein Bassoon. To expand the phenotypic spectrum, we identified 15 additional individuals with protein-truncating variants (PTVs) from large biobanks. Clinical features were standardized...
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