A case of Ehlers Danlos syndrome type VI.

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Salavoura K, Valari M, Kolialexi A, Mavrou A, Kitsiou S

A case of Ehlers Danlos syndrome type VI.

Genet Couns. 2006;17(3):291-4.

PubMed ID

17100196 [ View in PubMed

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Abstract

Ehlers Danlos type VI is a rare autosomal recessive connective tissue disease involving primarily the skin and joints. The main feature of the condition is neonatal hypotonia and rare complications are ruptures of arteries and the eye globe. A 4 year old girl with a typical clinical presentation and molecular diagnosis of EDS VI is presented. Sequencing of PLOD1 gene revealed a homozygous deletion in exon 13 (c.1362delC), leading to a frameshift and truncation of the lysyl hydroxylase, an enzyme necessary for collagen biosynthesis. Early diagnosis allowed treatment with high doses of ascorbic acid in order to prevent complications, genetic counseling of the family and prenatal diagnosis of an unaffected embryo.

DrugBank Data that Cites this Article

Drug Targets

Drug	Target	Kind	Organism	Pharmacological Action	Actions
Ascorbic acid	Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1	Protein	Humans	Unknown	Cofactor	Details