A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability.
Axonal neuropathy
Ptosis
SPTBN4
Spectrin beta non-erythrocytic 4
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Apr 2020
Apr 2020
Historique:
received:
09
04
2019
revised:
14
11
2019
accepted:
14
12
2019
pubmed:
21
12
2019
medline:
1
1
2021
entrez:
21
12
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31857255
pii: S1769-7212(19)30233-2
doi: 10.1016/j.ejmg.2019.103826
pii:
doi:
Substances chimiques
Protein Isoforms
0
Spectrin
12634-43-4
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
103826Informations de copyright
Copyright © 2019 Elsevier Masson SAS. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest There are no conflicts of interest.