Dejerine-Sottas disease: genes and variants
Dejerine-Sottas disease is linked to 1 analyzed protein (PMP22). 5 DNA variants are known to cause it; 7 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Dejerine-Sottas disease
PMP22: Peripheral myelin protein 22
Its dosage is critical for normal Schwann-cell myelin formation and stability in peripheral nerves. Duplication causes Charcot-Marie-Tooth disease type 1A, deletion causes hereditary neuropathy with liability to pressure palsies, and point variants cause additional neuropathies.
5 disease-causing and 7 uncertain variants in PMP22 are linked to Dejerine-Sottas disease.
Known disease-causing variants in Dejerine-Sottas disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PMP22 G150C | 150 | Transmembrane | Disease-causing (★★) |
| PMP22 G150R | 150 | Transmembrane | Disease-causing (★★) |
| PMP22 S72W | 72 | Transmembrane | Disease-causing (★★) |
| PMP22 H12Y | 12 | Transmembrane | Disease-causing (★) |
| PMP22 G100R | 100 | Transmembrane | Disease-causing (★) |
Same protein, different disease
- Charcot-Marie-Tooth disease is also caused by PMP22 variants; they fall partly in the same places as the Dejerine-Sottas disease variants (28 disease-causing).
Diseases related to Dejerine-Sottas disease
- Charcot-Marie-Tooth disease, also linked to PMP22
- Hereditary liability to pressure palsies, also linked to PMP22
Frequently asked questions
Which genes are linked to Dejerine-Sottas disease?
In CATVariant, Dejerine-Sottas disease is linked to 1 analyzed protein: PMP22 (Peripheral myelin protein 22).
How many genetic variants are linked to Dejerine-Sottas disease?
12 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 7 are of uncertain significance or have conflicting reports.
Which uncertain variants in Dejerine-Sottas disease look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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