Table 1:
Human diseases linked to mutations in genes encoding lamins and associated proteins. Key: A-type lamins | B-type lamins | Lamin associated proteins | Lamin processing proteins
| Disease [references] | Gene (Phenotype MIM number) |
Phenotype | |
|---|---|---|---|
| LMNA (181350, 616516) | |||
| Emery-Dreifuss muscular dystrophy [37,38,S1–3] |
EMD (310300) SYNE1 (612998) SYNE2 (612999) TMEM43 (614302) |
Skeletal myopathy, cardiomyopathy, early contractures, cardiac conduction defects |
|
| Limb girdle muscular dystrophy [46,47] |
LMNA (159001) TOR1AIP1 (617072) |
Progressive limb weakness, late contractures, arrhythmogenic cardiomyopathy | |
| Muscular dystrophy, congenital [39] | LMNA (613205) | Limb and axial muscle weakness and wasting | |
| Dilated cardiomyopathy, type 1A [48,S4] | LMNA (115200) | Cardiac dilation, reduced ejection fraction | |
| Cardiomyopathy, dilated, with hypergonadotropic hypogonadism [S5] | LMNA (212112) | Cardiomyopathy, hypogonadism | |
| Heart-hand syndrome, Slovenian type [50] | LMNA (610140) | Heart conduction defects, cardiomyopathy, abnormal bone development in hands and feet |
|
| Hutchinson-Gilford progeria syndrome [51,53] | LMNA (176670) | Symptoms of premature ageing, alopecia, scleroderma, lipodystrophy, cardiovascular defects | |
| Restrictive dermopathy [56,S6] |
LMNA (275210) ZMPSTE24 (275210) |
Taut facies, intrauterine growth retardation, death within weeks of extrauterine life | |
| Mandibuloacral dysplasia [54,S7] |
LMNA (248370) ZMPSTE24 (608612) |
Mandibular hypoplasia, growth restriction, progressive osteolysis, variable lipodystrophy and progeroid symptoms. | |
| Charcot-Marie-Tooth disease, type 2B1 [59,S8] | LMNA (605588) | Lower limb motor and sensory neuropathy, pes cavus | |
| Familial partial lipodystrophy, type 2 [62–64] | LMNA (151660) | Abnormal distribution of subcutaneous fat with cushingoid appearance, metabolic defects including diabetes mellitus and hypertriglyceridemia | |
| Leukodystrophy, adult-onset, autosomal dominant [61] | LMNB1 (169500) | Multiple-sclerosis-like symptoms, autonomic dysfunction, CNS demyelination | |
| Progressive myoclonic epilepsy-9 [60] | LMNB2 (616540) | Myoclonic epilepsy, brain developmental defects, muscle atrophy | |
| Lipodystrophy, partial, acquired, susceptibility to [65] | LMNB2 (608709) | Loss of subcutaneous fat, metabolic disorder | |
| Nestor-Guillermo progeria syndrome [55] | BANF1 (614008) | Variable lipoatrophy, skeletal and cardiac abnormalities | |
| Greenberg skeletal dysplasia [58] | LBR (215140) | Osteochondroplasia, fetal demise, hydrops | |
| Pelger-Huet anomaly [S9] | LBR (169400) | Skeletal defects, epilepsy, developmental delay, abnormal granulocyte nuclear morphology | |
| Buschke-Ollendorff syndrome [57] | LEMD3 (166700) | Multiple nevi, osteopoikilosis | |
| Spinocerebellar ataxia, autosomal recessive 8 [S1] | SYNE1 (610743) | Ataxia, dysarthria, variable muscle atrophy | |
| Deafness, autosomal recessive 76 [S10] | SYNE4 (615540) | Progressive high-frequency hearing loss | |
| Arrhythmogenic right ventricular dysplasia 5 [49] | TMEM43 (604400) | Arrhythmogenic cardiomyopathy, right ventricular dysplasia, center ventricular enlargement |
|