title: A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.
abstract: The vascular type of the Ehlers-Danlos syndrome (Ehlers-Danlos syndrome type IV, EDS IV; OMIM #130050) is a rare connective tissue disorder with autosomal dominant transmission caused by mutations in the COL3A1 gene resulting in increased fragility of connective tissue with arterial, intestinal, and uterine ruptures and premature death. We present a 28-year-old female who in addition to typical EDS IV symptoms had severe peripheral artery occlusive disease (PAOD) and subtotal stenosis of the abdominal aorta. COL3A1 sequencing resulted in detection of an as yet undescribed mutation in exon 36 at position 2465 leading to a nucleotide replacement (c.2465G>C; p.G822A). Ultrastructural analysis of a skin biopsy revealed abnormal morphology and distribution of dermal collagen fibres. We conclude that PAOD is a possible manifestation of EDS IV and that further research is required to define its true prevalence among patients with EDS IV and its molecular pathology including genotype-phenotype correlation.
authors.forename: Johanna
authors.initials: J
authors.lastname: Eder
authors.forename: Franco
authors.initials: F
authors.lastname: Laccone
authors.forename: Marianne
authors.initials: M
authors.lastname: Rohrbach
authors.forename: Cecilia
authors.initials: C
authors.lastname: Giunta
authors.forename: Klaus
authors.initials: K
authors.lastname: Aumayr
authors.forename: Christofer
authors.initials: C
authors.lastname: Reichel
authors.forename: Franz
authors.initials: F
authors.lastname: Trautinger
mesh_terms: D000328:Adult; D001157:Arterial Occlusive Diseases / Q000209:etiology; D001706:Biopsy; D024061:Collagen Type III / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D058729:Peripheral Arterial Disease / Q000209:etiology; D012867:Skin / Q000473:pathology / Q000648:ultrastructure
chemical_list: C439971:COL3A1 protein, human; D024061:Collagen Type III