title: Inherited disorders of desmosomes.
abstract: Desmosomes are highly organized intercellular junctions that provide mechanical integrity to tissues by anchoring intermediate filaments to sites of strong adhesion. These cell-cell adhesion junctions are found in skin, heart, lymph nodes and meninges. Over the last 8 years, several naturally occurring human gene mutations in structural components of desmosomes have been reported. These comprise autosomal dominant or recessive mutations in plakophilin 1, plakophilin 2, desmoplakin, plakoglobin, desmoglein 1, desmoglein 4 and corneodesmosin. These discoveries have often highlighted novel or unusual phenotypes, including abnormal skin fragility and differentiation, and developmental anomalies of various ectodermal appendages, especially hair. Some desmosomal gene mutations may also result in cardiac disease, notably cardiomyopathy. This article describes the spectrum of clinical features that may be found in the inherited disorders of desmosomes and highlights the key functions of several of the desmosomal proteins in tissue adhesion and cell biology.
authors.affiliation: Genetic Skin Disease Group, St John's Institute of Dermatology, The Guy's, King's College and St Thomas' Hospitals' Medical School, London, UK. john.mcgrath@kcl.ac.uk
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D000818:Animals; D051182:Desmogleins / Q000235:genetics; D003896:Desmosomes / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D051179:Plakins / Q000235:genetics; D051191:Plakophilins / Q000235:genetics; D012873:Skin Diseases, Genetic / Q000235:genetics*; D051185:gamma Catenin / Q000235:genetics
chemical_list: C109656:CDSN protein, human; D051182:Desmogleins; D006023:Glycoproteins; D036341:Intercellular Signaling Peptides and Proteins; D051179:Plakins; D051191:Plakophilins; D051185:gamma Catenin