Ehlers-Danlos syndrome types

COUAICOL1A2 Osteogenesis imperfecta, type T(MIM 1566200) Osteoporosis (MIM 166710) Ehlers-Danlos syndrome type VII autosomal dominant (130060)... 

Lysyl hydroxylase Ehlers-Danlos syndrome type VI (MIM 225400)... 

Ehlers-Danlos syndrome type V, is due to a deficiency in lysyl oxidase and results in hypermobile joints and hyperextensibility of the skin. The India-rubber man found in circuses probably had such a collagen deficiency. 

Some congenital diseases such as Marfan syndrome or Ehlers Danlos syndrome (type 4) can cause arteriopathies of cranial cervical vessels. In Ehlers Danlos syndrome, elongations, dissections, dilatation and aneurysms, as well as fistula in large and mid-size arteries, are found. Cystic medial necrosis (Ueda et al. 1999) leads to aortic dissections which can include supraaortic vessels (Fig. 5.27)... 

Takahara K, Schwatze U, Imamura Y, Hoffman GG, Toriello H et al (2(X)2) Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormtil pro-tilphal(V) N-propeptides tind Ehlers-Danlos syndrome type I. Am J Hum Genet 71 451 65... 

Uoyd J, Narcisi P, Richards A, Pope FM. A T+6 to C+6 mutation in the donor splice site of COL31A IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV. J Med genet 1993 30 376-80. 

Wertelecki W, Smith LT, Byers P. Initial observation of human dermatosparaxis Ehlers-Danlos syndrome type VIIC. J Pediatr 1992 124 558-64. 

Carr AJ, Chiodo AA, Hilton JM, Chow CW et al. The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the sphce acceptor site of tiatron 5 of the CollA2 genes. J Med Genet 1994 31 306-11. 

Unknown genes on chromosome 12 Ehlers-Danlos syndrome - type VIII Aggressive periodontal disease... 

Several collagen disorders result from defects in the formation of cross-links (Chapter 11). The cross-linking disorders can be due to a hereditary deficiency of lysyl oxidase, inhibition of lysyl oxidase, deficiency of copper, defects in the formation of cross-links, or defects in their stabilization. The genetic deficiency of lysyl oxidase is characterized by Ehlers-Danlos syndrome type IX (Table 25-5) and some forms of cutis laxa. Type IX Ehlers-Danlos syndrome patients exhibit extreme extensibility of the skin, cigarette-paper scarring, and easy bruisability. In cutis laxa, the skin is loose and inelastic and appears to be too large for the surface it covers. Some affected individuals exhibit deficiency of lysyl oxidase, presumably... 

Ascorbic acid (vitamin C adult RDA = 60 mg) 4g Ehlers-Danlos syndrome, type VI (ocular type) Procollagen lysyl hydroxylase... 

However, in fibroblasts there were no biochemical differences between MD and OHS [8]. Clinically, OHS must be differentiated from X-linked recessive Ehlers/Danlos syndrome type V. The latter is a milder disease with mild laxity of the skin and joints [12, 15]. 

Steinmann B (1993) Occipital Horn Syndrome, formerly Ehlers-Danlos syndrome type IX, in Connective Tissue and its Heritable Disorders (eds P.M. Royce and B. Steinmann), Wiley-Liss, New York, pp 386-387. 

Two reviews containing references to the glycosylation of collagens have appeared one describes the normal metabolism of collagen and comments on the lysylhydroxylase deficiency in the Ehlers-Danlos syndrome type VI, while the other highlights recent developments in studies of articular cartilage collagen. ... 

Diseases associated with impaired synthesis of collagen include scurvy, osteogenesis imperfecta, Ehlers-Danlos syndrome (many types), and Menkes disease. 

The neuromuscular compartment of the bowel wall is also affected in certain types of the Ehler-Danlos syndrome [162], maybe in amyloidosis [163], and in the presence of diffuse lymphocytic infiltration [164],... 

More than 100 mutations of the COL3A1 gene can cause Ehlers-Danlos syndrome (EDS) type IV, an autosomal dominant disorder characterized by joint and dermal manifestations similar to the other forms of the syndrome, but in addition these individuals are prone to spontaneous ruptures of bowel and large arteries. 

COL1A2 null allele mutations produce collagen that has three al(I>chains rather than two al(I> and one a2(I>chains (50% of all type I collagen in heterozygous and 100% in homozygous cases).The al(I>homotrimer does have a normal role, but only as a minor collagen in fetal tissues. Mutations that result in exclusive synthesis of al(I>homotrimers cause rare recessive forms of OI and Ehlers-Danlos syndrome (Schwarze et al., 2004). 

Ehlers-Danlos syndrome" Pseudoxanthoma elasticum" Neurofibromatosis type I"... 

Berney T, La Scala G, Vetterel D et al. Surgical pitfalls in a patient with type IV Ehlers-Danlos syndrome. Dis Colon Rectum 1994 37 1038-42. 

Other mutations of fibrillar collagen, or mutations that affect collagen-processing, cause Ehlers-Danlos syndrome (EDS), a group of heritable connective tissue disorders causing skin hyperextensibility, articular hypermobility, and tissue fragility. The 3 major types are classic (EDS-I and EDS-II), hypermobility (EDS-III) and vascular (EDS-IV). 

The importance of lysyl hydroxylation is seen in patients with the type VI variant of Ehlers-Danlos syndrome (Table 25-5). The collagen in these individuals has a decreased fibril diameter and profound changes in mechanical properties. Skin fibroblasts show virtually no lysyl hydroxylase activity. Furthermore, hydroxylysine formation can be severely affected in some tissues, mildly affected in others, and unaffected in still others (e.g., cartilage). These observations suggest the presence of tissue-specific lysyl hydroxylases. 

The conversion of procollagen to collagen by removal of propeptides seems to be essential for the formation of collagen fibrils. This supposition is supported by studies of two heritable diseases, one found in humans and the other in cattle, sheep, and cats. In both, the defect lies in the removal of N-terminal propeptides and results in impaired fibril formation. The human disorder is the type VII variant of Ehlers-Danlos syndrome (Table 25-5). Affected individuals exhibit marked joint hypermobility, dislocation of joints, short stature, and minor changes in skin elasticity. Their skin fibroblasts show normal... 

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