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MAP1B mutations cause intellectual disability and extensive white matter deficit.

ABSTRACT: 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 (??=?-2.1SD, P?=?5.1?×?10^-8), 47% less corpus callosum (CC) volume (??=?-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.

SUBMITTER: Walters GB

PROVIDER: S-EPMC6110722 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature

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MAP1B mutations cause intellectual disability and extensive white matter deficit.

Walters G Bragi GB Gustafsson Omar O Sveinbjornsson Gardar G Eiriksdottir Valgerdur K VK Agustsdottir Arna B AB Jonsdottir Gudrun A GA Steinberg Stacy S Gunnarsson Arni F AF Magnusson Magnus I MI Unnsteinsdottir Unnur U Lee Amy L AL Jonasdottir Adalbjorg A Sigurdsson Asgeir A Jonasdottir Aslaug A Skuladottir Astros A Jonsson Lina L Nawaz Muhammad S MS Sulem Patrick P Frigge Mike M Ingason Andres A Love Askell A Norddhal Gudmundur L GL Zervas Mark M Gudbjartsson Daniel F DF Ulfarsson Magnus O MO Saemundsen Evald E Stefansson Hreinn H Stefansson Kari K

Nature communications 20180827 1

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. Carri ...[more]

PMID: 30150678

Dataset Information

MAP1B mutations cause intellectual disability and extensive white matter deficit.

Publications

MAP1B mutations cause intellectual disability and extensive white matter deficit.

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