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Title:

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

Document type:
Article; Journal Article; Research Support, Non-U.S. Gov't
Author(s):
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;...     »
Abstract:
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 heterozygous variants (c.44G>A [p.Arg15Gln], c.103C>T [p.Arg35Trp], c.104G>A [p.Arg3...     »
Journal title abbreviation:
Am J Hum Genet
Year:
2021
Journal volume:
108
Journal issue:
7
Pages contribution:
1330-1341
Fulltext / DOI:
doi:10.1016/j.ajhg.2021.05.007
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/34102099
Print-ISSN:
0002-9297
TUM Institution:
Institut für Humangenetik; Klinik und Poliklinik für Kinder- und Jugendmedizin
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