A new COL3A1 mutation in Ehlers-Danlos syndrome type IV

作者：Eder Johanna^*; Laccone Franco; Rohrbach Marianne; Giunta Cecilia; Aumayr Klaus; Reichel Christofer; Trautinger Franz

来源：Experimental Dermatology, 2013, 22(3): 231-234.

DOI：10.1111/exd.12105

• angiopathy
• connective tissue
• Ehlers-Danlos syndrome type IV
• mutation
• type III collagen

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%26gt;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.

• 出版日期2013-3
• 单位河北医科大学