SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of human genetics"
DOI: 10.1038/s10038-021-00975-1
Abstract: Heterozygous mutations in SPTAN1 are associated with a broad phenotypical spectrum ranging from axonal neuropathy phenotypes to neurodevelopmental phenotypes with or without epilepsy. Recently, biallelic mutations in SPTAN1 were reported as a potential cause of… read more here.
Keywords: hereditary spastic; cause autosomal; autosomal recessive; complicated hsp ... See more keywords
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Sign Up to like & getrecommendations! 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