期刊
INTRACTABLE & RARE DISEASES RESEARCH
卷 7, 期 1, 页码 37-41出版社
INT RESEARCH & COOPERATION ASSOC BIO & SOCIO-SCIENCES ADVANCEMENT
DOI: 10.5582/irdr.2018.01010
关键词
Ehlers-Danlos syndrome; osteogenesis imperfecta; transmission electron microscopy; collagen type I
资金
- Shandong Key Research and Development Plan [2016ZDJS07A10, 2016GSF201222]
- Shandong Provincial Natural Science Foundation of China [2015ZRC03171]
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 I 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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