Skip to main content

Table 1 Diseases caused by mutations in nuclear envelope proteins.

From: The nuclear envelopathies and human diseases

Affected Gene Disease Protein defects Refs
Lamin A Hutchinson-Gilford progeria syndrome Deleted 50 a.a. at carboxyl terminal [63]
  Atypical Werner syndrome A57P, R133L, L140R [64]
  Emery-Dreifuss muscular dystrophy, type 2 missense mutations [65]
  Emery-Dreifuss muscular dystrophy, type 3 H222Y [66]
  Limb-gridle muscular dystrophy type 1B missense mutations [67]
  Dilated cardiomyopathy, type 1A missense mutations in exons 1 or 3 [68]
  Charcot-Marie-Tooth disorder type 2B1 R298C [69]
  Familial partial lipodystrophy, Dunnigan type missense mutations in exons 8 and 11 [70, 71]
  Mandibuloacral dysplasia R527H, K542N, A529V, R527C/R471C [72]
  Restrictive dermopathy partial loss of exon 11 [73]
  Generalized lipoatrophy/lipodystrophy R133L and T10I [74]
Emerin X-linked Emery-Dreifuss muscular dystrophy S54F, P183T, P183H, Del95-99, Del236-241 [75, 76]
Lamin B receptor Pelger-Huët anomaly defective splicing [12]