MAP1B mutations cause intellectual disability and extensive white matter deficit.
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AuthorsWalters, G Bragi
Eiriksdottir, Valgerdur K
Agustsdottir, Arna B
Jonsdottir, Gudrun A
Gunnarsson, Arni F
Magnusson, Magnus I
Lee, Amy L
Nawaz, Muhammad S
Norddhal, Gudmundur L
Gudbjartsson, Daniel F
Ulfarsson, Magnus O
MetadataShow full item record
CitationMAP1B mutations cause intellectual disability and extensive white matter deficit 2018, 27;9(1):3456 Nature communications
AbstractDiscovery 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
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