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Article

Heterozygous variants in SPTBN1 cause intellectual disability and autism.

American journal of medical genetics. Part A - 1 Jul 2021

Rosenfeld Jill A, Xiao Rui, Bekheirnia Mir Reza, Kanani Farah, Parker Michael J, Koenig Mary K, van Haeringen Arie, Ruivenkamp Claudia, Rosmaninho-Salgado Joana, Almeida Pedro M, Sá Joaquim, Pinto Basto Jorge, Palen Emily, Oetjens Kathryn F, Burrage Lindsay C, Xia Fan, Liu Pengfei, Eng Christine M, Yang Yaping, Posey Jennifer E, Lee Brendan H

Abstract excerpt

Spectrins are common components of cytoskeletons, binding to cytoskeletal elements and the plasma membrane, allowing proper localization of essential membrane proteins, signal transduction, and cellular scaffolding. Spectrins are assembled from α and β subunits, encoded by SPTA1 and SPTAN1 (α) and SPTB, SPTBN1, SPTBN2, SPTBN4, and SPTBN5 (β). Pathogenic variants in various spectrin genes are associated with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33847457
DOI: 10.1002/ajmg.a.62201
PMCID: PMC11182376

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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