title: The Genetics of Soft Connective Tissue Disorders.
abstract: Over the last few years, the field of hereditary connective tissue disorders has changed tremendously. This review highlights exciting insights into three prototypic disorders affecting the soft connective tissue: Ehlers-Danlos syndrome, pseudoxanthoma elasticum, and cutis laxa. For each of these disorders, the identification and characterization of several novel but related conditions or subtypes have widened the phenotypic spectrum. In parallel, the vast underlying molecular network connecting these phenotypes is progressively being uncovered. Identification and characterization (both clinical and molecular) of new phenotypes within the connective tissue disorder spectrum are often key to further unraveling the pathways involved in connective tissue biology and delineating the clinical spectrum and pathophysiology of the disorders. Although difficult challenges remain, recent findings have expanded our pathophysiological understanding and may lead to targeted therapies in the near future.
authors.affiliation: Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; email: paul.coucke@ugent.be.
authors.forename: Olivier
authors.initials: O
authors.lastname: Vanakker
authors.forename: Bert
authors.initials: B
authors.lastname: Callewaert
authors.forename: Fransiska
authors.initials: F
authors.lastname: Malfait
authors.forename: Paul
authors.initials: P
authors.lastname: Coucke
mesh_terms: D003240:Connective Tissue Diseases / Q000175:diagnosis* / Q000235:genetics*; D003483:Cutis Laxa / Q000235:genetics; D004535:Ehlers-Danlos Syndrome / Q000235:genetics; D005109:Extracellular Matrix / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D011561:Pseudoxanthoma Elasticum / Q000235:genetics
keywords: Ehlers-Danlos syndrome; cutis laxa; gene discovery; next-generation sequencing; pseudoxanthoma elasticum