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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Authors :
Hui Guo
Elisa Bettella
Paul C. Marcogliese
Rongjuan Zhao
Jonathan C. Andrews
Tomasz J. Nowakowski
Madelyn A. Gillentine
Kendra Hoekzema
Tianyun Wang
Huidan Wu
Sharayu Jangam
Cenying Liu
Hailun Ni
Marjolein H. Willemsen
Bregje W. van Bon
Tuula Rinne
Servi J. C. Stevens
Tjitske Kleefstra
Han G. Brunner
Helger G. Yntema
Min Long
Wenjing Zhao
Zhengmao Hu
Cindy Colson
Nicolas Richard
Charles E. Schwartz
Corrado Romano
Lucia Castiglia
Maria Bottitta
Shweta U. Dhar
Deanna J. Erwin
Lisa Emrick
Boris Keren
Alexandra Afenjar
Baosheng Zhu
Bing Bai
Pawel Stankiewicz
Kristin Herman
University of Washington Center for Mendelian Genomics
Saadet Mercimek-Andrews
Jane Juusola
Amy B. Wilfert
Rami Abou Jamra
Benjamin Büttner
Heather C. Mefford
Alison M. Muir
Ingrid E. Scheffer
Brigid M. Regan
Stephen Malone
Jozef Gecz
Jan Cobben
Marjan M. Weiss
Quinten Waisfisz
Emilia K. Bijlsma
Mariëtte J. V. Hoffer
Claudia A. L. Ruivenkamp
Stefano Sartori
Fan Xia
Jill A. Rosenfeld
Raphael A. Bernier
Michael F. Wangler
Shinya Yamamoto
Kun Xia
Alexander P. A. Stegmann
Hugo J. Bellen
Alessandra Murgia
Evan E. Eichler
Source :
Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)
Publication Year :
2019
Publisher :
Nature Portfolio, 2019.

Abstract

Neurodevelopmental disorders (NDDs) are a heterogeneous group of diseases for which the genetic basis is still unknown in more than half of the cases. Here, the authors report a NDD associated with disruptive variants in the TANC2 gene and show that rols, the TANC2 homolog in flies, is required for synapse growth and function.

Subjects

Subjects :
Science

Details

Language :
English
ISSN :
20411723
Volume :
10
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Nature Communications
Publication Type :
Academic Journal
Accession number :
edsdoj.663adb56ce6f405da787645af9303af8
Document Type :
article
Full Text :
https://doi.org/10.1038/s41467-019-12435-8