Familial partial lipodystrophy, Dunnigan type: genes and variants
Familial partial lipodystrophy, Dunnigan type is linked to 1 analyzed protein (LMNA). 13 DNA variants are known to cause it; 25 more are uncertain, and 1 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Familial partial lipodystrophy, Dunnigan type
LMNA: Prelamin-A/C
The gene product produces lamins A and C, structural proteins that form the nuclear lamina beneath the inner nuclear membrane. Lamins help maintain nuclear shape and organize chromatin, and LMNA variants are associated with muscular dystrophy, cardiomyopathy, lipodystrophy, and premature-aging syndromes.
13 disease-causing and 25 uncertain variants in LMNA are linked to Familial partial lipodystrophy, Dunnigan type.
Where Familial partial lipodystrophy, Dunnigan type variants cluster
- LMNA Coil 1A (positions 34–70): 3 of 13 disease-causing changes, 4.1× more than its size predicts.
- LMNA Coil 2 (positions 243–383): 5 of 13 disease-causing changes, 1.8× more than its size predicts.
Known disease-causing variants in Familial partial lipodystrophy, Dunnigan type
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LMNA R296H | 296 | IF rod | Disease-causing (★★) |
| LMNA R335W | 335 | IF rod | Disease-causing (★★) |
| LMNA R482W | 482 | LTD | Disease-causing (★★) |
| LMNA R62G | 62 | IF rod | Disease-causing (★★) |
| LMNA R249Q | 249 | IF rod | Disease-causing (★★) |
| LMNA R377H | 377 | IF rod | Disease-causing (★★) |
| LMNA G465D | 465 | LTD | Disease-causing (★★) |
| LMNA T10I | 10 | Head | Disease-causing (★★) |
| LMNA R296P | 296 | IF rod | Disease-causing (★) |
| LMNA N56K | 56 | IF rod | Disease-causing (★) |
| LMNA K486N | 486 | LTD | Disease-causing (★) |
| LMNA R60G | 60 | IF rod | Disease-causing |
| LMNA D230N | 230 | IF rod | Disease-causing |
Uncertain variants in Familial partial lipodystrophy, Dunnigan type that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| LMNA R296C | 296 | IF rod | Uncertain (★★) | +6: 2 other pathogenic changes within 3 positions; R296P at the same position is pathogenic; REVEL 0.888 |
Same protein, different disease
- Charcot-Marie-Tooth disease is also caused by LMNA variants; they fall mostly in different places as the Familial partial lipodystrophy, Dunnigan type variants (130 disease-causing).
- Dilated cardiomyopathy is also caused by LMNA variants; they fall mostly in different places as the Familial partial lipodystrophy, Dunnigan type variants (21 disease-causing).
- Emery-Dreifuss muscular dystrophy is also caused by LMNA variants; they fall partly in the same places as the Familial partial lipodystrophy, Dunnigan type variants (12 disease-causing).
- Congenital muscular dystrophy due to LMNA mutation is also caused by LMNA variants; they fall mostly in different places as the Familial partial lipodystrophy, Dunnigan type variants (11 disease-causing).
- Hutchinson-Gilford syndrome is also caused by LMNA variants; they fall mostly in different places as the Familial partial lipodystrophy, Dunnigan type variants (9 disease-causing).
Diseases related to Familial partial lipodystrophy, Dunnigan type
- Charcot-Marie-Tooth disease, also linked to LMNA
- Dilated cardiomyopathy, also linked to LMNA
- Bethlem myopathy, also linked to LMNA
- Primary dilated cardiomyopathy, also linked to LMNA
- Arrhythmogenic right ventricular dysplasia, also linked to LMNA
- Emery-Dreifuss muscular dystrophy, also linked to LMNA
- Congenital muscular dystrophy due to LMNA mutation, also linked to LMNA
- Muscular dystrophy, also linked to LMNA
- Primary familial dilated cardiomyopathy, also linked to LMNA
- Hutchinson-Gilford syndrome, also linked to LMNA
- Familial cardiomyopathy, also linked to LMNA
- Heart-hand syndrome, Slovenian type, also linked to LMNA
Frequently asked questions
Which genes are linked to Familial partial lipodystrophy, Dunnigan type?
In CATVariant, Familial partial lipodystrophy, Dunnigan type is linked to 1 analyzed protein: LMNA (Prelamin-A/C).
How many genetic variants are linked to Familial partial lipodystrophy, Dunnigan type?
46 variants: 13 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 25 are of uncertain significance or have conflicting reports.
Which uncertain variants in Familial partial lipodystrophy, Dunnigan type look disease-causing?
1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example LMNA R296C. These are leads for expert review, not diagnoses.
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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