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MAP1B mutations cause intellectual disability and extensive white matter deficit

Journal article
Authors G. B. Walters
O. Gustafsson
G. Sveinbjornsson
V. K. Eiriksdottir
A. B. Agustsdottir
G. A. Jonsdottir
S. Steinberg
A. F. Gunnarsson
M. I. Magnusson
U. Unnsteinsdottir
A. L. Lee
A. Jonasdottir
A. Sigurdsson
A. Jonasdottir
A. Skuladottir
Lina Jonsson
M. S. Nawaz
P. Sulem
M. Frigge
A. Ingason
A. Love
G. L. Norddhal
M. Zervas
D. F. Gudbjartsson
M. O. Ulfarsson
E. Saemundsen
H. Stefansson
K. Stefansson
Published in Nature Communications
Volume 9
Issue 1
ISSN 2041-1723
Publication year 2018
Published at Institute of Neuroscience and Physiology, Department of Pharmacology
Language en
Links dx.doi.org/10.1038/s41467-018-05595...
Keywords fragile-x-syndrome, emotion recognition, corpus-callosum, educational-attainment, microtubule dynamics, protein, brain, abnormalities, individuals, spectrum, Science & Technology - Other Topics
Subject categories Pharmaceutical Sciences

Abstract

Discovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Wholegenome sequencing of 31,463 Icelanders uncovers a frameshift variant (E712KfsTer10) in microtubule-associated protein 1B (MAP1B) that associates with ID/low IQ in a large pedigree (genome-wide corrected P = 0.022). Additional stop-gain variants in MAP1B (E1032Ter and R1664Ter) validate the association with ID and IQ. Carriers have 24% less white matter (WM) volume (beta = -2.1SD, P = 5.1 x 10(-8)), 47% less corpus callosum (CC) volume (beta = -2.4SD, P = 5.5 x 10(-10)) and lower brain-wide fractional anisotropy (P = 6.7 x 10(-4)). In summary, we show that loss of MAP1B function affects general cognitive ability through a profound, brain-wide WM deficit with likely disordered or compromised axons.

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