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Article

A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability.

European journal of medical genetics - 1 Apr 2020

Häusler Martin G, Begemann Matthias, Lidov Hart G, Kurth Ingo, Darras Basil T, Elbracht Miriam

Abstract excerpt

Mutations in spectrin beta non-erythrocytic 4 (SPTBN4) have been linked to congenital hypotonia, intellectual disability and motor neuropathy. Here we report on two siblings with a homozygous splice-site mutation in the SPTBN4 gene, lacking previously reported features of the disorder such as seizures, feeding difficulties, respiratory difficulties or profound intellectual disability. Our findings indicate that...

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Identifiers

PMID: 31857255
DOI: 10.1016/j.ejmg.2019.103826

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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