• autosomal dominant Emery-Dreifuss muscular dystrophy 2

In humans, multiple genes have been implicated in muscular dystrophy; in addition, in most cases, any specific gene is implicated in multiple forms of the disease. This report describes Emery-Dreifuss muscular dystrophy 2 (EDMD2), which is one of several forms of the disease associated with the human gene LMNA; EDMD2 exhibits autosomal dominant inheritance. LGMD1B, a form of limb-girdle muscular dystrophy (FBhh0000207), has recently been recategorized as a manifestation of EDMD2. Additional information about fly models for this and related diseases can be found in the report 'muscular dystrophy, lamin-related' (FBhh0000196).

There are multiple lamins in both humans and flies: the human genes LMNA, LMNB2 and LMNB1 are orthologous to fly genes Dmel\Lam and Dmel\LamC. Classical amorphic alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated for both fly genes. Multiple UAS and heat-shock constructs of the human Hsap\LMNA gene have been introduced into flies, including wild-type LMNA, mutant protein isoforms, and deletion constructs.

Mutations in the fly LamC gene that correspond to variants implicated in EDMD2 have been characterized; see the 'Disease-Implicated Variants' table below.

Amorphic alleles of both Dmel\LamC and Dmel\Lam are lethal, usually in the larval or pupal stage. For hypomorphic alleles, surviving adults show reduced viability, locomotion defects, and various visible phenotypes. Genetic and physical interactions have been described for both genes; see below and in the LamC and Lam gene reports.

[updated Jan. 2022 by FlyBase; FBrf0222196]