Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man

Yanqin Lu; Yanzhou Wang; Frank Rauch; Hu Li; Yao Zhang; Naixiang Zhai; Jian Zhang; Xiuzhi Ren; Jinxiang Han

doi:10.5582/irdr.2018.01010

Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man

Intractable Rare Dis Res. 2018 Feb;7(1):37-41. doi: 10.5582/irdr.2018.01010.

Authors

Yanqin Lu^{1

2}, Yanzhou Wang³, Frank Rauch⁴, Hu Li^{1

2}, Yao Zhang^{1

2}, Naixiang Zhai^{1

2}, Jian Zhang^{1

2}, Xiuzhi Ren⁵, Jinxiang Han^{1

2}

Affiliations

¹ Key Laboratory for Rare & Uncommon Diseases of Shandong Province, Shandong Medicinal Biotechnology Centre, Shandong Academy of Medical Sciences, Ji'nan, China.
² School of Medicine and Life Sciences, University of Ji'nan-Shandong Academy of Medical Sciences, Ji'nan, China.
³ Department of Paediatric Surgery, Shandong Provincial Hospital, Ji'nan, China.
⁴ Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada.
⁵ Department of Orthopaedic Surgery, The People's Hospital of Wuqing District, Tianjin, China.

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.

Keywords: Ehlers-Danlos syndrome; collagen type I; osteogenesis imperfecta; transmission electron microscopy.