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Walters, G Bragi; Gustafsson, Omar; Sveinbjornsson, Gardar; Eiriksdottir, Valgerdur K; Agustsdottir, Arna B; Jonsdottir, Gudrun A; Steinberg, Stacy; Gunnarsson, Arni F; Magnusson, Magnus I; Unnsteinsdottir, Unnur; Lee, Amy L; Jonasdottir, Adalbjorg; Sigurdsson, Asgeir; Jonasdottir, Aslaug; Skuladottir, Astros; Jonsson, Lina; Nawaz, Muhammad S; Sulem, Patrick; Frigge, Mike; Ingason, Andres; Love, Askell; Norddhal, Gudmundur L; Zervas, Mark; Gudbjartsson, Daniel F; Ulfarsson, Magnus O; Saemundsen, Evald; Stefansson, Hreinn; Stefansson, Kari
Nature communications, 08/2018, Letnik: 9, Številka: 1Journal Article
Discovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Whole-genome 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 ), 47% less corpus callosum (CC) volume (β = -2.4SD, P = 5.5 × 10 ) and lower brain-wide fractional anisotropy (P = 6.7 × 10 ). 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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