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Case Reports
. 2020 Apr;63(4):103826.
doi: 10.1016/j.ejmg.2019.103826. Epub 2019 Dec 16.

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

Martin G Häusler  1 , Matthias Begemann  2 , Hart G Lidov  3 , Ingo Kurth  2 , Basil T Darras  4 , Miriam Elbracht  2
Affiliations
Case Reports

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

Martin G Häusler et al. Eur J Med Genet. 2020 Apr.

Abstract

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 muscular hypotonia, myopathic facies with ptosis and axonal neuropathy can be the core clinical features in the SPTBN4 disorder and suggest that SPTBN4 mutation analysis should be considered in infants with marked axonal neuropathy.

Keywords: Axonal neuropathy; Ptosis; SPTBN4; Spectrin beta non-erythrocytic 4.

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Conflict of interest statement

Declaration of competing interest There are no conflicts of interest.

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