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

• Published in: European journal of medical genetics Vol. 63; no. 4; p. 103826
• Main Authors: Häusler, Martin G., Begemann, Matthias, Lidov, Hart G., Kurth, Ingo, Darras, Basil T., Elbracht, Miriam
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Masson SAS 01.04.2020
• Subjects: Axonal neuropathy; Axons - pathology; Axons - ultrastructure; Child; Child, Preschool; Female; Hereditary Sensory and Motor Neuropathy - genetics; Hereditary Sensory and Motor Neuropathy - pathology; Homozygote; Humans; Male; Muscle Hypotonia - genetics; Mutation; Phenotype; Protein Isoforms - genetics; Ptosis; Spectrin - genetics; Spectrin beta non-erythrocytic 4; SPTBN4; Spectrin beta non-erythrocytic 4; Ptosis; SPTBN4; Axonal neuropathy
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2019.103826

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.