A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome

Miki Watanabe; Ryuji Nakagawa; Takuya Naruto; Tomohiro Kohmoto; Ken-Ichi Suga; Aya Goji; Shoji Kagami; Kiyoshi Masuda; Issei Imoto

doi:10.1038/hgv.2016.30

A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome

Hum Genome Var. 2016 Sep 15:3:16030. doi: 10.1038/hgv.2016.30. eCollection 2016.

Authors

Miki Watanabe¹, Ryuji Nakagawa², Takuya Naruto¹, Tomohiro Kohmoto¹, Ken-Ichi Suga², Aya Goji², Shoji Kagami², Kiyoshi Masuda¹, Issei Imoto¹

Affiliations

¹ Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
² Department of Pediatrics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.

Abstract

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutation in COL5A2 [NM_000393.3(COL5A2_v001):c.682G>A, p.Gly228Arg].