International Foundation for Emery-
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This is transmitted as an X-
More than 150 mutations are deposited in a mutation database. In addition to classical Emery-
The Genetics of of EDMD
EDMD2 is inherited in an autosomal dominant manner. Bonne and colleagues originally identified mutations in LMNA on chromosome 1q21 affected individuals in 6 families with autosomal dominant Emery-
Although classical autosomal dominant Emery-
The LMNA mutations that cause these cardiomyopathy/muscular dystrophies are mostly missense or small in-
Intriguingly, more than a dozen differently named clinical conditions have been linked to mutations in LMNA. These diseases are often referred to as “laminopathies.” Laminopathies can be grouped into disorders selectively affecting striated muscle (such as autosomal dominant Emery-
EDMD3 has been attributed to an autosomal recessively inherited LMNA mutation (Raffaele di Barletta et al 2000). Only one patient has been described who had early onset contractures and subsequent diffuse muscle wasting. There was no reported heart disease by 40 years of age. Both parents were heterozygous for the mutation and had no evidence of skeletal muscle disease.
Putative autosomal dominant mutations in SYNE1 encoding nesprin1 have been reported to cause Emery-
Zhang and colleagues reported 2 unrelated patients with heterozygous mutations in SYNE1 that lead to amino acid substitutions in nesprin1alpha (Zhang et al 2007). One of these patients had only asymptomatic increased serum creatine kinase activity; the other had weakness and atrophy of the neck and shoulder muscle with contractures starting at age 11 years, leading to his requiring a wheelchair for mobility by age 26 years of age. A heterozygous SYNE1 mutation leading to an amino acid substitution in nepsrin1alplha has also been reported in an individual who developed dilated cardiomyopathy requiring cardiac transplantation (Puckelwartz et al 2010).
Recessively inherited mutations in SYNE1 have more clearly been linked to cerebellar ataxia (Gros-
SYNE2 encodes nesprin2, which like nesprin1 is a KASH domain protein with several isoforms, the larger ones localized to the outer nuclear membrane and connecting the nucleus to the cytoskeleton (Gundersen and Worman 2013). Some nesprin2 isoforms, presumably smaller ones localized in part to the inner nuclear membrane, also bind to emerin and A-
After identification of EMD as a causative mutation of X-
FHL1 encodes four-
LUMA is an integral protein of the inner nuclear membrane (Dreger et al 2001). Mutations in TMEM43 encoding LUMA were originally identified in families with arrhythmogenic right ventricular cardiomyopathy (Merner et al 2008). Heterozygous mutations in TMEM43 have also been identified in 2 sporadic patients with an Emery-
TOR1AIP1 encodes lamina-
Meinke and colleagues identified nonsynonymous SUN1 and SUN2 mutations in 3 individuals who had Emery-