De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.

doi:10.1016/j.ajhg.2021.05.007

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Article

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.

American journal of human genetics - 1 Jul 2021

Usmani Muhammad A, Ahmed Zubair M, Magini Pamela, Pienkowski Victor Murcia, Rasmussen Kristen J, Hernan Rebecca, Rasheed Faiza, Hussain Mureed, Shahzad Mohsin, Lanpher Brendan C, Niu Zhiyv, Lim Foong-Yen, Pippucci Tommaso, Ploski Rafal, Kraus Verena, Matuszewska Karolina, Palombo Flavia, Kianmahd Jessica, Martinez-Agosto Julian A, Lee Hane, Colao Emma, Motazacker M Mahdi, Brigatti Karlla W, Puffenberger Erik G, Riazuddin S Amer, Gonzaga-Jauregui Claudia, Chung Wendy K, Wagner Matias, Schultz Matthew J, Seri Marco, Kievit Anneke J A, Perrotti Nicola, Wassink-Ruiter J S Klein, van Bokhoven Hans, Riazuddin Sheikh, Riazuddin Saima

Abstract excerpt

Adaptor protein (AP) complexes mediate selective intracellular vesicular trafficking and polarized localization of somatodendritic proteins in neurons. Disease-causing alleles of various subunits of AP complexes have been implicated in several heritable human disorders, including intellectual disabilities (IDs). Here, we report two bi-allelic (c.737C>A [p.Pro246His] and c.1105A>G [p.Met369Val]) and eight de novo...

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Identifiers

PMID: 34102099
DOI: 10.1016/j.ajhg.2021.05.007
PMCID: PMC8322935

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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