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MAP1B mutations cau...
MAP1B mutations cause intellectual disability and extensive white matter deficit
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Walters, G. B. (author)
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Gustafsson, O. (author)
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Sveinbjornsson, G. (author)
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Eiriksdottir, V. K. (author)
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Agustsdottir, A. B. (author)
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Jonsdottir, G. A. (author)
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Steinberg, S. (author)
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Gunnarsson, A. F. (author)
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Magnusson, M. I. (author)
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Unnsteinsdottir, U. (author)
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Lee, A. L. (author)
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Jonasdottir, A. (author)
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Sigurdsson, A. (author)
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Jonasdottir, A. (author)
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Skuladottir, A. (author)
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- Jonsson, Lina, 1982 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi,Institute of Neuroscience and Physiology, Department of Pharmacology
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Nawaz, M. S. (author)
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Sulem, P. (author)
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Frigge, M. (author)
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Ingason, A. (author)
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Love, A. (author)
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Norddhal, G. L. (author)
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Zervas, M. (author)
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Gudbjartsson, D. F. (author)
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Ulfarsson, M. O. (author)
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Saemundsen, E. (author)
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Stefansson, H. (author)
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Stefansson, K. (author)
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(creator_code:org_t)
- 2018-08-27
- 2018
- English.
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 9:1
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https://www.nature.c...
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https://gup.ub.gu.se...
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Abstract
Subject headings
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- 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 (beta = -2.1SD, P = 5.1 x 10(-8)), 47% less corpus callosum (CC) volume (beta = -2.4SD, P = 5.5 x 10(-10)) and lower brain-wide fractional anisotropy (P = 6.7 x 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Farmaceutiska vetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Pharmaceutical Sciences (hsv//eng)
Keyword
- fragile-x-syndrome
- emotion recognition
- corpus-callosum
- educational-attainment
- microtubule dynamics
- protein
- brain
- abnormalities
- individuals
- spectrum
- Science & Technology - Other Topics
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Walters, G. B.
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Gustafsson, O.
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Sveinbjornsson, ...
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Eiriksdottir, V. ...
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Agustsdottir, A. ...
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Jonsdottir, G. A ...
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show more...
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Steinberg, S.
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Gunnarsson, A. F ...
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Magnusson, M. I.
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Unnsteinsdottir, ...
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Lee, A. L.
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Jonasdottir, A.
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Sigurdsson, A.
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Skuladottir, A.
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Jonsson, Lina, 1 ...
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Nawaz, M. S.
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Sulem, P.
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Frigge, M.
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Ingason, A.
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Love, A.
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Norddhal, G. L.
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Zervas, M.
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Gudbjartsson, D. ...
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Ulfarsson, M. O.
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Saemundsen, E.
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Stefansson, H.
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Stefansson, K.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Pharmaceutical S ...
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Nature Communica ...
- By the university
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University of Gothenburg