Ehlers-Danlos syndrome, type VI

Genes: 

Sinonimo: 

EDS VIA;EDS, kyphoscoliotic type;EDS, oculoscoliotic type;Ehlers-Danlos syndrome type 6A;Ehlers-Danlos syndrome, oculoscoliotic type

Tipo de test: 

Tiempo de espera: 

35 dias

Más información

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. The kyphoscoliotic form, formerly called EDS type VI or oculoscoliotic EDS, is marked from birth onwards by progressive congenital scoliosis, severe muscle hypotonia, hyperextensibility of all joints, and fragile eyeballs. Ocular fragility can lead to retinal haemorrhage, glaucoma, sclera coloration, or even rupture of the ocular globe. The disease is very rare and is transmitted as an autosomal recessive trait. It is due to lysyl-hydroxylase deficiency, an enzyme involved in posttranslational modification of lysine in the alpha pro-chains of collagen. The LH1 gene (or PLOD gene) that codes for the enzyme is located on the short arm of chromosome 1 (1p36); it has been cloned and homozygous or compound heterozygous mutations have been identified in patients affected by kyphoscoliotic EDS. Type VIB is defined by normal lysyl-hydroxylase activity but mutations have been reported in the LH2 or LH3 genes. Biochemical screening tests (to determine lack or reduced activity of lysyl hydroxylase in cultivated fibroblasts) are available in specialised laboratories. On extremely rare occasions, molecular analysis of chorionic villus samples for mutations in the PLOD gene can be used as an antenatal diagnostic tool. Management is symptomatic only. Prognosis of EDS type VI is variable, and can be severe, with loss of walking ability during the 2nd or 3rd decade of life.

Fuente: 

Tomado de Orphanet

Prevalencia: 

Unknown

Herencia: 

Autosomal recessive