Intractable & Rare Diseases Research
Online ISSN : 2186-361X
Print ISSN : 2186-3644
Brief Reports
Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man
Yanqin LuYanzhou WangFrank RauchHu LiYao ZhangNaixiang ZhaiJian ZhangXiuzhi RenJinxiang Han
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Volume 7 (2018) Issue 1 Pages 37-41

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Abstract

Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are rare genetic disorders that are typically inherited in an autosomal dominant manner. Few cases of OI/EDS overlap syndrome have been documented. Described here is a 30-year-old Chinese male with OI type III and EDS. Sequencing of genomic DNA revealed a heterozygous COL1A1 mutation (c.671G>A, p.Gly224Asp) that affected the N-anchor domain of the alpha 1 chain of collagen type I. Ultrastructural analysis of a skin biopsy specimen revealed thin collagen fibers with irregular alignment of collagen fibers. These findings have expanded the genotypic spectrum of the OI/EDS overlap syndrome.

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© 2018 International Research and Cooperation Association for Bio & Socio-Sciences Advancement
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