Molecular Bases of EDS ... (1)

The progress of the Human Genome Project and other advances in molecular genetics has provided much information regarding the molecular basis of Ehlers-Danlos syndrome. Physical positions of respective genes and their locations on chromosomal maps are as follows:

Molecular Bases of EDS

Type	Protein Abnormality	Gene Abnormality	Chromosome Locus
Classic	Type V collagen	COL5A1 COL5A2	9q34.2-34.3 2q31
Hypermobility	Unknown	Unknown	Unknown
Vascular	Type III collagen	COL3A1	2q31
Kyphoscoliosis	Lysyl hydroxylase deficiency	PLOD1	1p36.3-36.2
Arthrochalasia	Type I collagen	COL1A1 COL1A2	17q31-22.5 7q22.1
Dermatosparaxis	N-proteinase	ADAMST2	5q23-24