Salavoura K, Valari M, Kolialexi A, Mavrou A, Kitsiou S
Department of Immunology & Histocompatibility, Childrens' Hospital Aghia Sophia, Athens, Greece.
Genet Couns. 2006;17(3):291-4.
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.
埃勒斯-当洛综合征VI型是一种罕见的常染色体隐性结缔组织疾病，主要累及皮肤和关节。该病的主要特征是新生儿肌张力减退，罕见并发症为动脉和眼球破裂。本文介绍了一名患有典型临床表现且经分子诊断为埃勒斯-当洛综合征VI型的4岁女孩。PLOD1基因测序显示外显子13存在纯合缺失（c.1362delC），导致赖氨酰羟化酶发生移码和截短，而赖氨酰羟化酶是胶原蛋白生物合成所必需的一种酶。早期诊断使得能够采用高剂量维生素C进行治疗以预防并发症，为该家庭提供遗传咨询，并对未受影响的胚胎进行产前诊断。
