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

A case of Ehlers Danlos syndrome type VI.

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

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Department of Immunology & Histocompatibility, Childrens' Hospital Aghia Sophia, Athens, Greece. Salavoura_Katerina@hotmail.com

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.

PMID:: 17100196; [PubMed - indexed for MEDLINE]

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Review Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. [Mol Genet Metab. 2000]
Review Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.
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