Table 1.
List of proteins/genes involved in nucleo-cytoskeletal coupling and the diseases associated with specific mutations. Not included here are mutations in cytoskeletal and motor proteins, which can result in muscular dystrophies, cardiomyopathies, and lissencephaly due to impaired neuronal migration [16].
| Protein (Gene) | Diseases [Reference] |
|---|---|
|
| |
| Lamin A/C (LMNA) | Emery-Dreifuss muscular dystrophy [78] |
| Limb-girdle muscular dystrophy [79] | |
| Dilated cardiomyopathy [80] | |
| Congenital muscular dystrophy (dropped head) [81] | |
| Heart-hand syndrome [82] | |
| Dunnigan-type familial partial lipodystrophy [83] | |
| Generalized lipoatrophy [84] | |
| Mandibuloacral dysplasia [85] | |
| Charcot-Marie-Tooth syndrome [86] | |
| Atypical Werner Syndrome [87] | |
| Hutchinson-Gilford progeria syndrome [86, 88] | |
| Restrictive dermopathy [89] | |
|
| |
| Lamin B1 (LMNB1) | Adult onset leukodystrophy (caused by duplication) [66] |
|
| |
| Lamin B2 (LMNB2) | Partial lipodystrophy [67, 68] |
|
| |
| Emerin (STA/EMD) | Emery-Dreifuss muscular dystrophy [90] |
|
| |
| Nesprin1 (SYNE1) | Emery-Dreifuss muscular dystrophy [91] |
| Dilated Cardiomyopathy [92] | |
| Cerebellar ataxia [61] | |
| Arthrogryposis [62] | |
|
| |
| Nesprin2 (SYNE2) | Emery-Dreifuss muscular dystrophy [91] |
| Dilated Cardiomyopathy [91] | |
|
| |
| Nesprin3 (SYNE3) | None reported to date |
|
| |
| Nesprin4 (NESP4) | Hearing loss [64] |
|
| |
| SUN1 (SUN1) | None reported to date |
|
| |
| SUN2 (SUN2) | Emery-Dreifuss muscular dystrophy (patient also carried other mutations) [65] |
|
| |
| TorsinA (TOR1A) | Early-onset generalized torsion dystonia [93] |