Ehlers-Danlos syndrome panel




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Ehlers-Danlos syndrome (EDS) is known like a group of hereditary connective tissue disorders that share common characteristics in terms of stretchy skin, joint hypermobility, and tissue fragility. Other features include hypotonia with delayed motor development, fatigue, muscle cramps and bruises. Likewise, there are also frequent in the mitral valve prolapse and tricuspid valve, aortic root dilatation and spontaneous rupture of large arteries. Traditionally speaks of two subtypes: Ehlers-Danlos syndrome type I and Ehlers-Danlos syndrome type II.
Worth mentioning that the number of individuals with mutations described in the COL5A1 or COL5A2 genes is relatively small. There is some variability in the severity of the phenotype, and it has not been found correlation so far between the genotype and phenotype of the individual concerned.
Thus, there may be large inter-and intrafamilial variability, so that in a family, an individual with a non-functional COL5A1 allele can exhibit an EDS mild phenotype, while other members of the family can have a severe phenotype.
The prevalence of EDS type I has been estimated at 1:20,000 inhabitants. However, it is possible for people with milder forms of the disease, previously classified as EDS type II, do not require medical attention and not be detected.
The EDS has an autosomal dominant inheritance, and it is estimated that approximately 50% of affected individuals have inherited the disease-causing mutation of an affected parent, and about the other 50% of individuals would possess a mutation of novo.
Therefore, it is desirable to receive genetic counseling (including discussion of potential risks to offspring and reproductive options), especially those young adults who are affected or insecure. Ehlers-Danlos Syndrome Type III (EDS III) has joint hypermobility as primary manifestation . In this case, the skin has a velvety texture and slightly tender hyperextension. Also common is the appearance of degenerative joint disorders, atrophic scarring and dislocations, among others. Chronic pain can be disabling for the patient, both physically and psychologically
Diagnosis of EDS, hypermobility type is based entirely on the clinical evaluation and family history. TNXB mutations (encodes tenascin XB) and the COL3A1 gene (type 3 collagen alpha-1 chain) are terms of the appearance of disease. Its inheritance is autosomal dominant.


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