Regressive spondylometaphyseal dysplasia: genes and variants
Regressive spondylometaphyseal dysplasia is linked to 1 analyzed protein (LBR). 2 DNA variants are known to cause it; 5 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 Regressive spondylometaphyseal dysplasia
LBR: Delta(14)-sterol reductase LBR
An inner nuclear-membrane protein with sterol-reductase activity in the cholesterol-biosynthesis pathway. It also contributes to nuclear-envelope organization and myeloid-cell maturation, and LBR variants are associated with Pelger-Huet anomaly and skeletal dysplasia.
2 disease-causing and 5 uncertain variants in LBR are linked to Regressive spondylometaphyseal dysplasia.
Known disease-causing variants in Regressive spondylometaphyseal dysplasia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LBR R512Q | 512 | Disease-causing (★★) | |
| LBR N547S | 547 | Disease-causing (★★) |
Same protein, different disease
- Greenberg dysplasia is also caused by LBR variants; they fall mostly in different places as the Regressive spondylometaphyseal dysplasia variants (4 disease-causing).
- Pelger-Huët anomaly is also caused by LBR variants; they fall mostly in different places as the Regressive spondylometaphyseal dysplasia variants (3 disease-causing).
Diseases related to Regressive spondylometaphyseal dysplasia
- Connective tissue disorder, also linked to LBR
- Greenberg dysplasia, also linked to LBR
- Pelger-Huët anomaly, also linked to LBR
- Reynolds syndrome, also linked to LBR
Frequently asked questions
Which genes are linked to Regressive spondylometaphyseal dysplasia?
In CATVariant, Regressive spondylometaphyseal dysplasia is linked to 1 analyzed protein: LBR (Delta(14)-sterol reductase LBR).
How many genetic variants are linked to Regressive spondylometaphyseal dysplasia?
10 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 5 are of uncertain significance or have conflicting reports.
Which uncertain variants in Regressive spondylometaphyseal dysplasia 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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