Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. SPTAN1 encephalopathy: distinct phenotypes and genotypes. Progressive diffuse brain atrophy in West syndrome with marked hypomyalination due to SPTAN1 gene mutation. Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy. Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation. A novel homozygous mutation in SPTBN2 leads to spinocerebellar ataxia in a consanguineous family: report of a new infantile-onset case and brief review of the literature. Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.

Recessive mutations in SPTBN2 implicate ОІ-III spectrin in both cognitive and motor development. Heterozygous missense pathogenic variants within the second spectrin repeat of SPTBN2 lead to infantile-onset cerebellar ataxia. Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: a case report.

Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia. Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype. De novo point mutations in patients diagnosed with ataxic cerebral palsy. Case of infantile onset spinocerebellar ataxia type 5. ОІIV spectrinopathies cause profound intellectual disability, congenital hypotonia, and motor axonal neuropathy. Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. Spectrin mutations cause spinocerebellar ataxia type 5. Cargo hold and delivery: ankyrins, spectrins, and their functional patterning of neurons. An adaptable spectrin/ankyrin-based mechanism for long-range organization of plasma membranes in vertebrate tissues. Spectrin- and ankyrin-based membrane domains and the evolution of vertebrates. 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 ОІII-spectrin in the central nervous system.Д«ennett, V. We show that these SPTBN1 variants lead to effects that affect ОІII-spectrin stability, disrupt binding to key molecular partners, and disturb cytoskeleton organization and dynamics. 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. 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. Mice deficient in neuronal ОІII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies.

SPTBN1 encodes ОІII-spectrin, the ubiquitously expressed ОІ-spectrin that forms micrometer-scale networks associated with plasma membranes. Nature Genetics volumeВ 53, pages 1006вЂ“1021 ( 2021) Cite this article Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

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