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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

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0 Published in 2021 at "Nature genetics"

DOI: 10.1038/s41588-021-00886-z

Abstract: SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies. These phenotypes, while less severe,… read more here.

Keywords: sptbn1 variants; variants cause; pathogenic sptbn1; cause autosomal ... See more keywords