Genetics and Genomics of Hereditary Disorders of Connective Tissue

Dear Colleagues,

Dr. Victor McKusick coined the phrase “Hereditary Disorders of Connective Tissue” (HDCT) over 60 years ago, in a 1959 article by the same name in the Bulletin of the New York Academy of Medicine.  At that time, Dr. McKusick recognized five conditions that “appear to be hereditary and generalized derangements of one or another element of connective tissue: Marfan syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta, pseudoxanthoma elasticum (PXE), and Hurler syndrome.”  Today, in addition to Marfan Syndrome and  PXE, we recognize 14 different types of Ehlers-Danlos syndrome, Stickler syndrome, Beals syndrome, arterial tortuosity syndrome, and over 200 distinct skeletal dysplasias, as well as more recently recognized diagnoses such as Loeys-Dietz syndrome, all of which fall under the broad umbrella of Hereditary Disorders of Connective Tissue. 

The ubiquitous nature of connective tissue results in multi-organ involvement in these conditions, which represent Mendelian models of disease for complex traits involving bone, skin, and vasculature.  This also leads to complex multi-system presentations and may result in a prolonged diagnostic odyssey for patients. 

Molecular studies have led to an understanding of the genetic cause for most of these conditions, with a few notable exceptions, and there is a robust research community exploring the molecular pathways and pathogenesis, modifying loci and rational approaches to therapy.  Animal models for many of these conditions have been created and allow the conduct of pre-clinical therapeutic trials.  The burgeoning interest in hereditary disorders of connective tissue has led to the development of this topical collection, which will publish new findings on the HDCT.  We intend to focus on three different groups of HDCT with special issues on aortopathies, elastinopathies, and skeletal dysplasias between 2021-23.  We invite you to submit original research articles, reviews, concept papers and commentaries to these topical collections. 

Dr. Nazli B. Mcdonnell
Prof. Dr. Bert Callewaert
Prof. Dr. Clair A. Francomano
Dr. Philippe Khau-Van-Kien
Dr. Yves Dulac
Collection Editors

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