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Article

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.

European journal of human genetics : EJHG - 1 Jul 2021

Buelow Markus, Süßmuth David, Smith Laurie D, Aryani Omid, Castiglioni Claudia, Stenzel Werner, Bertini Enrico, Schuelke Markus, Knierim Ellen

Abstract excerpt

Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519) is an autosomal recessive disease caused by homozygous or compound heterozygous variants in SPTBN4 coding for type 4 βIV-spectrin, a non-erythrocytic member of the β-spectrin family. Variants in SPTBN4 disrupt the cytoskeletal machinery that controls proper localization of ion channels and the function of axonal domains,...

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Child, Preschool
Electroencephalography
Exome Sequencing
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Genetic Association Studies

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Immunohistochemistry

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PMID: 33772159
DOI: 10.1038/s41431-021-00846-5
PMCID: PMC8298470

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