The nuclear envelopathies and human diseases

Table 1 Diseases caused by mutations in nuclear envelope proteins.

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]

ISSN: 1423-0127