Lamin A Gene Mutation

The lethal phenotype of a homozygous nonsense mutation in the lamin a c gene.

Lamin a gene mutation. Lmna dilated cardiomyopathy is associated with arrhythmias sudden death myocardial. These findings demonstrate that a lamin a c gene mutation can result in a pure dcm phenotype without skeletal muscle involvement and that lgmd1 b which maps to the same genetic locus 9 is likely to be due to mutations in the lamin a c gene. The first human lmna gene mutation was found to cause autosomal dominant emery dreifuss muscular dystrophy. Mutations in the lmna gene are associated with several diseases including emery dreifuss muscular dystrophy familial partial lipodystrophy limb girdle muscular dystrophy dilated cardiomyopathy charcot marie tooth disease and restrictive dermopathy a truncated version of lamin a commonly known as progerin causes hutchinson gilford progeria syndrome.

Lamin a c mutations among patients with familial dilated cardiomyopathy. From 2003 to december 2015 561 unrelated dcm probands were referred for genetic testing for familial dcm and 35 6 2 had a pathogenic lmna mutation comprising 18 different lmna mutations table 1. Lamin a c mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Lmna and the laminopathies.

Lmna gene mutation is associated with premature aging. Family genetic screening diagnosed further 93 lmna mutation positive. Van engelen bg muchir a hutchison cj et al. Laminopathies are caused among other mutations to mutations in lmna a gene that synthetizes lamins a and c.

The term lamin a c refers to lamins a and c which are products of splicing a type lamins. Lamin a c congenital muscular dystrophy cmd l cmd congenital muscular dystrophy associated to the lmna gene or emery dreifuss muscular dystrophy ii is a disease that it is included in laminopathies. In the latter part of the 20th century those who studied lamins were mainly cell biologists interested in fundamental processes such. Brodsky francesco muntoni snjezana miocic gianfranco sinagra caroline sewry and.

4 family members with a lamin a c gene mutation 3 of whom had phenotypic expression of left ventricular noncompaction. This illness implies like other muscular dystrophies muscle weakness motor. Finally the identification of this mutation in the lamin a c gene further supports the model that dcm. The lmna gene encodes nuclear lamin a and nuclear lamin c intermediate filament proteins that are components of the nuclear lamina lin and worman 1993 these atype lamins are expressed in virtually all differentiated somatic cells.

Lamin a c gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Mutations in the lamin a c gene lmna encoding nuclear a type lamins cause dilated cardiomyopathy with or without associated skeletal muscular dystrophy 1 2 lmna may be the most prevalent dilated cardiomyopathy gene as mutations appear to be responsible for 8 of inherited cases 3 4. Parks sb kushner jd nauman d et al.