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

• Watanabe, Miki

• Nakagawa, Ryuji

• Naruto, Takuya

• Kohmoto, Tomohiro

• Suga, Ken-ichi

• Goji, Aya

• Kagami, Shoji

• Masuda, Kiyoshi

• Imoto, Issei

書誌事項

タイトル別名

• Novel COL5A2 mutation in Ehlers–Danlos syndrome

抄録

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].

収録刊行物

• Human Genome Variation

  Human Genome Variation 3 16030-, 2016-09-15

  Springer Nature

詳細情報

• CRID: 1050287142191132672
• NII論文ID: 120006955874
• ISSN: 2054345X
• Web Site: http://repo.lib.tokushima-u.ac.jp/115132
• 本文言語コード: en
• 資料種別: journal article
• データソース種別:
  • IRDB
  • CiNii Articles