Title: | MAP1B mutations cause intellectual disability and extensive white matter deficit |
Author: |
... 18 more authors Show all authors |
Date: | 2018-08-27 |
Language: | English |
Scope: | 3456 |
University/Institute: | Háskóli Íslands (HÍ) University of Iceland (UI) |
School: | Heilbrigðisvísindasvið (HÍ) School of Health Sciences (UI) School of Engineering and Natural Sciences (UI) Verkfræði- og náttúruvísindasvið (HÍ) |
Department: | Faculty of Medicine (UI) Læknadeild (HÍ) Faculty of Electrical and Computer Engineering (UI) Rafmagns- og tölvuverkfræðideild (HÍ) |
Series: | Nature Communications;9(1) |
ISSN: | 2041-1723 |
DOI: | 10.1038/s41467-018-05595-6 |
Subject: | Developmental disorders; Genetics of the nervous system; Magnetic resonance imaging; Medical genetics; Þroskafrávik; Taugakerfi; Erfðafræði; Læknisfræði |
URI: | https://hdl.handle.net/20.500.11815/1390 |
Citation:Walters, G.B., Gustafsson, O., Sveinbjornsson, G. et al. MAP1B mutations cause intellectual disability and extensive white matter deficit. Nat Commun 9, 3456 (2018) doi:10.1038/s41467-018-05595-6
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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 (β = −2.1SD, P = 5.1 × 10−8), 47% less corpus callosum (CC) volume (β =
−2.4SD, P = 5.5 × 10−10) and lower brain-wide fractional anisotropy (P = 6.7 × 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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