MAP1B mutations cause intellectual disability and extensive white matter deficit.

doi:10.1038/s41467-018-05595-6

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Article

MAP1B mutations cause intellectual disability and extensive white matter deficit.

Nature communications - 27 Aug 2018

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

Abstract excerpt

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...

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PMID: 30150678
DOI: 10.1038/s41467-018-05595-6
PMCID: PMC6110722

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