What causes congenital muscular dystrophy (CMD) with familial junctional epidermolysis bullosa?

Updated: Jul 03, 2019
  • Author: Emad R Noor, MBChB; Chief Editor: Amy Kao, MD  more...
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Answer

This is an autosomal recessive disorder caused by a mutation on chromosome 8 in the plectin gene. [33, 34]

Plectin contains intermediate filament and actin binding domains and is in the plakin family of proteins.

It is ubiquitously expressed but with highest concentrations in squamous epithelial cells, muscle and at the blood-brain barrier and is concentrated at sites of stress such as hemidesmosomes, desmosomes, Z-lines, and intercalated disks.

Plectin interacts with various cytoskeletal proteins, including several types of intermediate filaments (eg, vimentin, desmin, lamin B, cytokeratins), actin, integrin β4, dystrophin, α-spectrin, desmoplakin, and microtubule associated proteins, as well as being able to link intermediate filaments with microtubules.

Plectin, like all plakins, acts as a cytolinker of various elements of the cytoskeleton, maintaining cell integrity. It also serves as a scaffolding platform for proteins involved in cell signaling. [35]


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