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Cousin MA; Creighton BA; Breau KA; Spillmann RC; Torti E; Dontu S; Tripathi S; Ajit D; Edwards RJ; Afriyie S; Bay JC; Harper KM; Beltran AA; Munoz LJ; Falcon Rodriguez L; Stankewich MC; Person RE; Si Y; Normand EA; Blevins A; May AS; Bier L; Aggarwal V; Mancini GMS; van Slegtenhorst MA; Cremer K; Becker J; Engels H; Aretz S; MacKenzie JJ; Brilstra E; van Gassen KLI; van Jaarsveld RH; Oegema R; Parsons GM; Mark P; Helbig I; McKeown SE; Stratton R; Cogne B; Isidor B; Cacheiro P; Smedley D; Firth HV; Bierhals T; Kloth K; Weiss D; Fairley C; Shieh JT; Kritzer A; Jayakar P; Kurtz-Nelson E; Bernier RA; Wang T; Eichler EE; van de Laar IMBH; McConkie-Rosell A; McDonald MT; Kemppainen J; Lanpher BC; Schultz-Rogers LE; Gunderson LB; Pichurin PN; Yoon G; Zech M; Jech R; Winkelmann J; Beltran AS; Zimmermann MT; Temple B; Moy SS; Klee EW; Tan QK; Lorenzo DN
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
  • Functional annotations (GO): 2
  • Genome features: 3
  • Phenotypic alleles: 3
  • Sequences: 1
Nat Genet
2021
53 (7) 1006-1021
5.592295
SPTBN1 encodes betaII-spectrin, the ubiquitously expressed beta-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal betaII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies. These phenotypes, while less severe, are observed in haploinsufficient animals, suggesting that individuals carrying heterozygous SPTBN1 variants may also show measurable compromise of neural development and function. Here we identify heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures; behavioral and movement abnormalities; hypotonia; and variable dysmorphic facial features. We show that these SPTBN1 variants lead to effects that affect betaII-spectrin stability, disrupt binding to key molecular partners, and disturb cytoskeleton organization and dynamics. Our studies define SPTBN1 variants as the genetic basis of a neurodevelopmental syndrome, expand the set of spectrinopathies affecting the brain and underscore the critical role of betaII-spectrin in the central nervous system.

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last database update
12/10/2024
MGI 6.24
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