A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome

• Kohmoto, Tomohiro

• Shono, Miki

• Naruto, Takuya

• Watanabe, Miki

• Suga, Ken-ichi

• Nakagawa, Ryuji

• Kagami, Shoji

• Masuda, Kiyoshi

• Imoto, Issei

書誌事項

タイトル別名

• Novel CHD7 mutation in CHARGE syndrome

抄録

CHARGE syndrome is a rare autosomal dominant developmental disorder involving multiple organs. CHD7 is a major causative gene of CHARGE syndrome. We performed targeted-exome sequencing using a next-generation sequencer for molecular diagnosis of a 4-month-old male patient who was clinically suspected to have CHARGE syndrome, and report a novel monoallelic mutation in CHD7, NM_017780.3(CHD7_v001):c.2966del causing a reading frameshift [p.(Cys989Serfs*3)].

収録刊行物

• Human Genome Variation

  Human Genome Variation 3 16004-, 2016-04-07

  Springer Nature

詳細情報

• CRID: 1050005667231477376
• NII論文ID: 120006955871
• ISSN: 2054345X
• Web Site: http://repo.lib.tokushima-u.ac.jp/115135
• 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