Omics · study · 2026
Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features
Listed in NCBI GEO
Spectrinopathies represent an emerging theme with overlapping phenotypes ranging from peripheral or central nervous system involvement towards complex syndromic presentations.
Description
A total of 60 different reported SPTAN1 mutations is exemplary for this diversity with phenotypes spanning almost the entire neurospectrinopathy spectrum, except myopathic involvement.Through collaboration within the Solve-RD network we collected patients with unsolved progressive distal weakness and unreported SPTAN1 variants.
We reached consensus on the interpretation of clinical picture, electrophysiology, muscle MRI and biopsy. Finally, SPTAN1 protein and RNA expression analysis was performed on available muscle biopsy on one of the patients. We provide evidence for the association of SPTAN1 frameshift variants with childhood onset distal myopathic as well as neurogenic features in 7 patients.
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This finding further extends the established spectrum of SPTAN1 haploinsufficiency associated with a variable penetrance of hereditary motor neuropathy and ID. Overlap between distal myopathic and neurogenic features could be present in other patients and may be overlooked due to phenotypic similarity.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE259nnn/GSE259351 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE259351 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1081277 ncbi.nlm.nih.gov/bioproject/PRJNA1081277 ↗
project · from NCBI GEO
Topics
- Stated by source
- Expression profiling by high throughput sequencing · Homo sapiens
- From keywords
- Life Sciences
- Inferred from text
- Magnetic resonance imaging 65%
Provenance · 1 source records, 8 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE259351 | 12 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[method].geo_series_type:expression-profiling-by-high-throughput-sequencing | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[modality].local:modality:mri | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (65%) |
| concepts[organism].NCBITaxon:9606 | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /taxon |
| description | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /summary |
| publication_date | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| title | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /title |